Anforderungsformular Molekular - und Zytogenetische ... · Prof. Dr. med. Jürgen Kohlhase Praxis...

Prof. Dr. med. Jürgen Kohlhase Praxis für Humangenetik Heinrich-von-Stephan-Str. 5 79100 Freiburg Tel. 0761-896454-0 Fax 0761-896454-9 [email protected] http://www.humangenetik-freiburg.de

Anforderungsformular Molekular- und Zytogenetische Diagnostik. Leistungsverzeichnis (Auszug) siehe Rückseite (vollständiges Leistungsverzeichnis siehe: www.humangenetik-freiburg.de) Humangenetische Leistungen berühren nicht das Laborbudget!

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Prof. Dr. med. Jürgen Kohlhase Praxis für Humangenetik Heinrich-von-Stephan-Str. 5 79100 Freiburg Tel. 0761-896454-0 Fax 0761-896454-9 [email protected] http://www.humangenetik-freiburg.de

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5

1 - Metabolic Diseases (continued)Pyruvate dehydrogenase E1-beta deficiency (PDHB)

Pyruvate dehydrogenase E2 deficiency (DLAT)

Pyruvate dehydrogenase phosphatase deficiency (PDP1)

Niemann-Pick disease type C2 (NPC2)

Ornithine transcarbamoylase deficiency (OTC)

Orotic aciduria (UMPS)

Pancreatitis (PRSS1)

Pancreatitis (SPINK1)

Pancreatitis (CFTR)

Pancreatitis (CTRC)

Pyruvate kinase deficiency with hemolytic anemia (PKLR)Refsum Disease (PHYH)

Refsum disease (PEX7)

Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH)Pentosuria (DCXR)

Periodic fever, familial autosomal dominant (TNFRSF1A)

B Schindler disease (NAGA)

B Sulfatase deficiency (SUMF1)

B Tay-Sachs disease (HEXA)

Tay-Sachs disease AB variant (GM2A)

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)

B Porphyria, acute intermittent (HMBS)

B Propionic acidemia (PCCA)

B Propionic acidemia (PCCB)

Prosaposin deficiency (PSAP)Pyruvate carboxylase deficiency (PC)

Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)

Transcobalamin II deficiency (TCN2)

Trifunctional protein deficiency (HADHA)

Tyrosinemia type I (FAH)Wilson disease (ATP7B)

Wolman Disease (LIPA)

2 - Neurological DiseasesSPG50 (AP4M1) Ataxia telangiectasia like disorder (MRE11A)

Cataracts facial dysmorphism and neuropathy (CTDP1)

2.1 - Hereditary Spastic Paraplegias (SPG)SPG50 (AP4M1)

2.1.1 - Spastic Paraplegia (SPG), Autosomal DominantSPG3A (ATL1)

SPG4 (SPAST)

SPG42 (SLC33A1) SPG6 (NIPA1)

SPG8 (KIAA0196)

SPG10 (KIF5A)

SPG12 (RTN2)

SPG13 (HSPD1) SPG17 (BSCL2)

SPG31 (REEP1)

SPG33 (ZFYVE27)

2.1.2 - Spastic Paraplegia (SPG), Autosomal RecessiveSPG39 (PNPLA6)

SPG44 (GJC2)

SPG11 (SPG11)

SPG15 (ZFYVE26)

SPG20 (SPG20)

SPG21 (SPG21)

SPG50 (AP4M1) SPG5A (CYP7B1)SPG7 (SPG7) SPG30 (KIF1A)

SPG35 (FA2H)

2.1.3 - Spastic Paraplegia (SPG), X-linkedSPG1 (L1CAM) SPG2 (PLP1)

2.1.4 - Other Spastic Paraplegia (SPG) FormsLeukodystrophy, dysmyelination and spastic paraparesis, with or withoutdystonia, SPG35 (FA2H)

Untersuchungsmaterial: in der Regel 5-10 ml EDTA-Blut, Versand am Entnahmetag, oder DNA.Wir führen die genannten Untersuchungen mit der jeweils sinnvollsten Technik durch, in der Regel mit direkter Sequenzierung oder bei Repeats mit Fragmentanalysen. Falls Dosisveränderungen für die angegebenen Gene beschrieben sind oder häufig Stoppmutationen vorkommen, bieten wir in der Regel auch Gendosisanalysen mittels quantitativer Real-Time PCR (Borozdin et al. 2004) oder MLPA an. Leistungen gemäß Kapitel 11.4 des EBM werden in der dort beschriebenen Reihenfolge durchgeführt (z.B. CFTR, zuerst Mutationspanel, dann ggf. Sequenzierung). Bei Leistungen gemäß EBM Kapitel 11.4 bitten wir um die dort geforderten anamnestischen Angaben. Weitere Tests und Hinweise zur Präanalytik: http://www.humangenetik-freiburg.de

Leistungsverzeichnis (22.01.2013). Bitte gewünschte Untersuchung ankreuzen x. Nicht aufgeführte ggf. hinzufügen oder Ergänzungsblatt beilegen. Ggf. bitten wir um Rücksprache (telefonisch oder per Email). Für die mit B markierten Untersuchungen sind biochemische Analysen verfügbar, die von unserem Kooperationspartner Centogene und nicht von uns durchgeführt werden. Bei Interesse kontaktieren Sie bitte Centogene (http://www.centogene.com, Tel. 0381-2036520)

*Fremdleistungen, die von unseren Partnerlaboren durchgeführt werden.

6

2.2 - Hereditary Polyneuropathies (HMSN)Ataxia telangiectasia like disorder (MRE11A) Cataracts facial dysmorphism and neuropathy (CTDP1)

2.2.1 - CMT1CMT1A (PMP22)

CMT1B (MPZ)

CMT1C (LITAF)

CMT1D (EGR2)

CMT1F (NEFL)

Neuropathy with liability to pressure palsies [HNPP] (PMP22)

2.2.2 - CMT2CMT2D (GARS)CMT2E (NEFL)

CMT2F (HSPB1)CMT2I (MPZ)

CMT2J (MPZ) CMT2K (GDAP1)

CMT2L (HSPB8)

CMT2, unclassified (AARS)

CMT20 (DYNC1H1)

CMT2A1 (KIF1B)

CMT2A2 (MFN2)

CMT2B (RAB7A)CMT2B1 (LMNA)

CMT2B2 (MED25)

CMT2C (TRPV4)

2.2.3 - Dejerine-Sottas-SyndromeDejerine-Sottas Syndrome [DSS] (MPZ,PMP22,PRX,EGR2,GJB1)

2.2.4 - CMT4CMT4E (EGR2)

CMT4E (MPZ)

CMT4F (PRX)

CMT4H (FGD4)

CMT4J (FIG4)

CMT4A (GDAP1)

CMT4B1 (MTMR2)

CMT4B2 (SBF2)

CMT4C (SH3TC2)

CMT4C1 (LMNA)

CMT4D (NDRG1)

2.2.5 - Autonomic Neuropathies46,XY gonadal dysgenesis, partial, with minifascicular neuropathy (DHH)

HSAN1 (SPTLC1)

HSAN2A (WNK1)

HSAN2B (FAM134B)

HSAN3 (IKBKAP)

HSAN4 (NTRK1)

HSAN5 (NGFB)HSN2C (KIF1A)

2.2.6 - Pure Motor NeuropathiesMuscular atrophy distal spinal AR type 4 (PLEKHG5)

Neuronopathy distal hereditary motor type IIA (HSPB8)

Neuronopathy distal hereditary motor type IIB (HSPB1)

Neuronopathy distal hereditary motor type V (GARS)

Neuronopathy distal hereditary motor type VI (IGHMBP2)

Neuronopathy distal hereditary motor type VIIB (DCTN1)

Neuronopathy X-linked distal hereditary motor (ATP7A)Neuropathy distal motor, autosomal recessive (DNAJB2)

2.2.8 - OthersAgenesis of the corpus callosum with peripheral neuropathy (SLC12A6)

Amyloidosis (TTR)

Amyotrophy hereditary neuralgic (SEPT9)

Ataxia telangiectasia like disorder (MRE11A)

Cataracts facial dysmorphism and neuropathy (CTDP1)

Cataracts facial dysmorphism and neuropathy (CTDP1) CMTX1 (GJB1)

CMTX5 (PRPS1)

DI-CMTB (DNM2)

DI-CMTC (YARS)

DI-CMTD (MPZ)

Giant axonal neuropathy (GAN)

Neuropathy, hereditary sensory, type IE (DNMT1)

Peripheral demyelinating neuropathy Waardenburg syndrome andHirschsprung disease (SOX10)

continued on next page ...




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2.2.8 - Others (continued)Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNALOPHTHALMOPLEGIA (C10ORF2)

Sensory ataxic neuropathy dysarthria, and ophthalmoparesis (POLG)

Slowed nerve conduction velocity AD (ARHGEF10)

Spinocerebellar ataxia AR with axonal neuropathy (TDP1)

2.4 - Non-Ataxic Movement Disorders

2.4.1 - DystoniaDYT18 - dystonia 18 (SLC2A1)

DYT3 - dystonia, X-linked (TAF1)

DYT5A - DOPA-responsive dystonia (GCH1)

DYT5A - DOPA-responsive dystonia (TH)

DYT6 - dystonia, primary (THAP1)

DYT8 - dystonia 8 (MR1)

Focal dystonia (GNAL)

Cervical dystonia (CIZ1)

Chorea, heriditary benign (NKX2-1)

Dystonia juvenile-onset (ACTB)

Dystonia, DOPA-responsive, AR (SPR)

DYT1 - dystonia type 1 (TOR1A)

DYT10 - Paroxysmal Kinesigenic Dyskinesia (PRRT2)

DYT11 - myoclonus-dystonia (SGCE)

DYT12 dystonia parkinsonism (ATP1A3)

DYT16 - dystonia 16 (PRKRA)

Focal dystonia (ANO3)

Mirror movements, familial congenital (RAD51)

2.4.2 - ParkinsonismPARK6 Parkinsonism (PINK1)

PARK7 Parkinsonism (PARK7)

PARK8 Parkinsonism (LRRK2)

PARK9 Parkinsonism (ATP13A2)

Parkinsonism-Dystonia, infantile (SLC6A3)

PARK 17, Parkinson disease, late onset (VPS35)

PARK1 Parkinsonism (SNCA)

PARK13 Parkinsonism (HTRA2)

PARK14 Parkinsonism (PLA2G6)

PARK15 Parkinsonism (FBXO7)

PARK2 Parkinsonism (PARK2)

2.5 - Ataxias and Trinucleotide Expansion Diseases

2.5.1 - Ataxias and Trinucleotide Expansion DiseasesKennedy disease (AR)Myotonic dystrophy type 1 (DMPK)Myotonic dystrophy type 2 (ZNF9)

Neuropathy, hereditary sensory, type IE (DNMT1)

Spastic ataxia Charlevoix-Saguenay type (SACS)

Spinocerebellar ataxia AR with axonal neuropathy (TDP1)

Spinocerebellar ataxia infantile-onset (C10ORF2)

Spinocerebellar ataxia type 1 (ATXN1)

Ataxia oculomotor apraxia PIK3R5 related (PIK3R5)Ataxia-oculomotor apraxia type 1 (APTX)

Ataxia-oculomotor apraxia type 2 (SETX)

Ataxia-telangiectasia (ATM)

Cerebellar ataxia, autosomal recessive type 1 (SYNE1)

Coenzyme Q10 deficiency type 1 (COQ2)

Coenzyme Q10 deficiency type 2 (PDSS1)

Coenzyme Q10 deficiency type 3 (PDSS2)

COENZYME Q10 DEFICIENCY type 4 (ADCK3)

Coenzyme Q10 deficiency type 5 (COQ9)

Spinocerebellar ataxia type 10 (ATXN10)

Spinocerebellar ataxia type 11 (TTBK2)

Spinocerebellar ataxia type 12 (PPP2R2B)

Spinocerebellar ataxia type 13 (KCNC3)Spinocerebellar ataxia type 14 (PRKCG)

Spinocerebellar ataxia type 15 (ITPR1)

Spinocerebellar ataxia type 18 (IFRD1)

Dentatorubral-pallidoluysian atrophy (ATN1)

Episodic ataxia type 1 (KCNA1)

Episodic ataxia type 2 (CACNA1A)

Episodic ataxia type 5 (CACNB4)

Episodic ataxia type 6 (SLC1A3)

Familial hemiplegic migraine type 2 (ATP1A2)

Familial hemiplegic migraine type 3 (SCN1A)

Familial hemiplegic migraine type1 (CACNA1A)

Fragile X syndrome (FMR1)

Spinocerebellar ataxia type 2 (ATXN2)Spinocerebellar ataxia type 23 (PDYN)

Spinocerebellar ataxia type 27 (FGF14)

Spinocerebellar ataxia type 28 (AFG3L2)

Friedreich ataxia (FXN)

Huntington disease (HTT) Huntington disease-like type 1 (PRNP)

Spinocerebellar ataxia type 3 (ATXN3) Spinocerebellar ataxia type 31 (BEAN) Spinocerebellar ataxia type 5 (SPTBN2)

Spinocerebellar ataxia type 6 (CACNA1A) Huntington disease-like type 2 (JPH3)Huntington disease-like type 4 (TBP)





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8

2.5.1 - Ataxias and Trinucleotide Expansion Diseases (continued)Vitamin E familial isolated deficiency of (TTPA) Spinocerebellar ataxia type 8 (ATXN8OS)

Spinocerebellar ataxia, autosomal recessive type 9 (CABC1)

2.6 - Leukodystrophies and Other Brain Diseases"Microcephaly 2, primary, autosomal recessive, with or without cortical Hydrocephalus with aqueductal stenosis and congenital intestinal

B

malformations" (604317)

Acrocallosal syndrome (KIF7)

Acyl-CoA peroxisomal oxidase deficiency (ACOX1)

Adrenoleukodystrophy (ABCD1)

Aicardi-Goutieres syndrome type 1 (TREX1)

Aicardi-Goutieres syndrome type 2 (RNASEH2B)

Aicardi-Goutieres syndrome type 3 (RNASEH2C)

Aicardi-Goutieres syndrome type 4 (RNASEH2A)

Aicardi-Goutieres syndrome type 5 (SAMHD1)

Alexander disease (GFAP)

Allan-Herndon-Dudley syndrome (SLC16A2)

Asperger syndrome susceptibility X-linked type I (NLGN3)

Autism susceptibility X-linked type I (NLGN3)

Autism susceptibility X-linked type II (NLGN4X)

Autosomal-dominant striatal degeneration (PDE8B)

Budd-Chiari syndrome (F5)

Budd-Chiari syndrome (JAK2)

Canavan disease (ASPA)

Central hypoventilation syndrome, congenital (ASCL1)

Central hypoventilation syndrome, congenital, with or without Hirschsprung

pseudoobstraction (L1CAM)Insensitivity to pain, channelopathy-associated (SCN9A)

Joubert syndrome type 1 (INPP5E)

Joubert syndrome type 10 (OFD1)

Joubert syndrome type 15 (CEP41)

Joubert syndrome type 16 (TMEM138)

Joubert syndrome type 17 (C5orf42)

Joubert syndrome type 19 (ZNF423)


Joubert syndrome type 3 (AHI1)

Joubert syndrome type 4 (NPHP1)

Joubert syndrome type 5 (CEP290)


Joubert syndrome type 7 (RPGRIP1L)

Joubert syndrome type 8 (ARL13B)

Joubert syndrome type 9 (CC2D2A)

Joubert syndrome, EXOC8 related (EXOC8 )

Joubert syndrome, EXOC8 related (EXOSC8 )

Krabbe disease (GALC)

Leigh syndrome (MT-ND3)disease (PHOX2B)

Cerebellar hypoplasia and mental retardation with or without quadrupedal Leigh syndrome (BCS1L)

locomotion 1 (VLDLR)

Cerebrotendinous xanthomatosis (CYP27A1)

COACH syndrome (TMEM67)

COACH syndrome (CC2D2A)COACH syndrome (RPGRIP1L)

Cohen syndrome (VPS13B)

Corpus callosum agenesis of with mental retardation ocular coloboma and

Leigh syndrome (C8ORF38)

Leigh syndrome (COX15)

Leigh syndrome (FOXRED1)

Leigh syndrome (NDUFA10)


Leigh syndrome (NDUFAF2)

Leigh syndrome (NDUFS4)Leigh syndrome (NDUFS3)

Leigh syndrome (NDUFS7) Leigh syndrome (NDUFS8)

B

B

B

B

B

B

B

B

B

B

micrognathia (IGBP1)

Encephalopathy acute necrotizing 1 (RANBP2)

Encephalopathy neonatal severe (MECP2)

Ethylmalonic encephalopathy (ETHE1)

Fucosidosis (FUCA1)

Giant axonal neuropathy (GAN)

Glycine encephalopathy (GCSH)

Glycosylation disorder type 1C (ALG6)

Glycosylation disorder type 1E (DPM1)

Glycosylation disorder type 1J (DPAGT1)

Glycosylation disorder type 1M (DOLK)

Glycosylation disorder type 2A (MGAT2) Glycosylation disorder type 2C (SLC35C1)

Glycosylation disorder type 2D (B4GALT1)

Glycosylation disorder type 2E (COG7) Glycosylation disorder type 2F (SLC35A1)

Glycosylation disorder type 2G (COG1)

Glycosylation disorder type 2H (COG8)

GM1-gangliosidosis type I (GLB1)Griscelli syndrome type 2 (RAB27A)

Leigh syndrome (NUBPL)Leigh syndrome (NDUFAF1)

Leigh syndrome (NDUFAF3)


Leigh syndrome and mitochondrial encephalopathy (ACAD9)

Leigh syndrome due to pyruvate carboxylase deficiency (PC)

Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1)

Leigh syndrome, due to COX deficiency (SURF1)

Leigh syndrome, French-Canadian type (LRPPRC)

Leukodystrophy demyelinating adult-onset autosomal dominant (LMNB1)

Leukodystrophy hypomyelinating (GJC2)

Leukodystrophy hypomyelinating, type 3 (AIMP1)

Leukodystrophy hypomyelinating, type 7 (POLR3A)

Leukodystrophy hypomyelinating, type 8 (POLR3B)

Leukoencephalopathy with brainstem and spinal cord involvement and lactateelevation (DARS2)

Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX)





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2.6 - Leukodystrophies and Other Brain Diseases (continued)Leukoencephalopathy with vanishing white matter (EIF2B1)

Leukoencephalopathy with vanishing white matter (EIF2B2)




Leukoencephalopathy, cystic, without megalencephaly (RNASET2)

Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)

Lissencephaly type 4 with microcephaly (NDE1)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)

Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)

Mental retardation with language impairment and autistic features (FOXP1)

MERRF, 1. level m.8363G>A only (MTTK)

MERRF, 2. level m8356, m8363, m8361 in MTTK; m611, m15967 in MTTP (MTTP)

MERRF, 2. level m8356,, m8363, m8361 in MTTK; m611, m15967 in MTTP (MTTK,MTTP)

Metachromatic leukodystrophy, due to Saposin B deficiency * (PSAP)

Microcephaly Amish type (SLC25A19)

Microcephaly CEP63 related (CEP63)

Microcephaly MRE11A related (MRE11A)Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)

Microcephaly, primary autosomal recessive type 7 (STIL)

Microcephaly, primary autosomal recessive type 8 (CEP135)

Mitochondrial DNA depletion syndrome (TK2)

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) (SUCLG1) R

Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy (POLG)Niemann-Pick disease type C1 (NPC1)

Pantothenate kinase-associated neurodegeneration (PANK2)

Parietal Foramina type 2 (ALX4)

Paroxysmal extreme pain disorder (SCN9A)

Pelizaeus-Merzbacher disease (PLP1)

Pelizaeus-Merzbacher disease (SLC16A2)

Periventricular heterotopia with microcephaly (ARFGEF2)Peroxisome biogenesis disorder, PEX11 related (PEX11A) Perrault syndrome (HSD17B4)

Phosphoglycerate dehydrogenase deficiency (PHGDH)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TYROBP)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TREM2)

Pontocerebellar hypoplasia type 1A (VRK1)

Pontocerebellar hypoplasia type 1B (EXOSC3)

Progressive external ophthalmoplegia with mitochondrial deletions 1 (POLG)

Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)

Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)

Progressive external ophthalmoplegia with mitochondrial deletions, AR (POLG)

Microcephaly, primary, autosomal recessive type 4 (CEP152) Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNAL

Microcephaly, primary, autosomal recessive type 5 (ASPM)Microcephaly, primary, autosomal recessive type I (MCPH1)

Microcephaly, with symplified gyral pattern and insulin-dependant diabetes

OPHTHALMOPLEGIA (C10ORF2)

Sialuria, Finish type (SLC17A5)

Sjogren-Larsson syndrome (ALDH3A2)

Thiamine metabolism dysfunction syndrome 2 (SLC19A3)

Tourette syndrome (SLITRK1)

Tuberous sclerosis (TSC1)

Tuberous sclerosis (TSC2)

Waardenburg syndrome/Hirschsprung disease (EDNRB)

Warburg micro syndrome type 1 (RAB3GAP1)

Zellweger syndrome (PEX1)Zellweger syndrome (PEX2)

Zellweger syndrome (PEX3)

(GFM2)Mitochondrial complex I deficiency (NDUFAF4)Mitochondrial complex I deficiency (NDUFS1)

Mitochondrial complex I deficiency (NDUFS2)

Mitochondrial complex I deficiency (FOXRED1)Mitochondrial complex I deficiency (NDUFA11)

Mitochondrial complex I deficiency (NDUFV1)

Mitochondrial complex I deficiency (NDUFV2)

Mitochondrial complex I deficiency (NDUFS4)

Mitochondrial complex I deficiency (NDUFS6)Mitochondrial complex II deficiency (SDHAF1) Mitochondrial complex III deficiency (TTC19)

Zellweger syndrome (PEX5)Zellweger syndrome (PEX6)

Zellweger syndrome (PEX10)Zellweger syndrome (PEX12)Zellweger syndrome (PEX13)Zellweger syndrome (PEX14)Zellweger syndrome (PEX16)Zellweger syndrome (PEX19)Zellweger syndrome (PEX26)

Mitochondrial complex III deficiency (BCS1L)

Mitochondrial complex IV deficiency (FASTKD2)

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2 )

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)

Mitochondrial DNA depletion syndrome (SUCLA2)

Mitochondrial DNA depletion syndrome (RRM2B)

Mitochondrial DNA depletion syndrome (C10ORF2)




10

2.7 - Muscular Disorders and Hereditary ALS-FormsAlpha-B-Crystallinopathy (CRYAB)

Amyotrophic lateral sclerosis type 1 (SOD1)

Amyotrophic lateral sclerosis type 10 (TARDBP)

Amyotrophic lateral sclerosis type 11 (FIG4)

Amyotrophic lateral sclerosis type 12 (OPTN)

Amyotrophic lateral sclerosis type 2 (ALS2)Amyotrophic lateral sclerosis type 4 (SETX)Amyotrophic lateral sclerosis type 8 (VAPB)

Amyotrophic lateral sclerosis type 9 (ANG)

Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72)

Limb-girdle muscular dystrophy, AR type 2K (POMT1)

Limb-girdle muscular dystrophy, AR type 2L (ANO5)

Limb-girdle muscular dystrophy, AR type 2M (FKTN)

Limb-girdle muscular dystrophy, AR type 2N (POMT1)

Malignant hyperthermia (RYR1)Minicore myopathy with external ophthalmoplegia (RYR1)


Mitochondrial DNA depletion syndrome (DGUOK)

Mitochondrial DNA depletion syndrome (TK2)

Miyoshi myopathy (DYSF)

Muscle hypertrophy (MSTN)

Muscular dystrophy type 1A (LAMA2)

Muscular dystrophy type 1C (FKRP)

Muscular dystrophy type 1D (LARGE)

Muscular dystrophy, Becker type (DMD)

Muscular dystrophy, Duchenne type (DMD)

Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2)

Bethlem myopathy (COL6A1)



Brody myopathy (ATP2A1)

Central core disease of muscle (RYR1)

Centronuclear myopathy 1 (MTMR14)

Centronuclear myopathy 3 (MYF6)

Cerebellar ataxia, autosomal recessive type 1 (SYNE1)

Compton-North congenital myopathy (CNTN1)

Creatine phosphokinase, elevated serum (CAV3)

Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)

Emery-Dreifuss muscular dystrophy type 1 (EMD)

Emery-Dreifuss muscular dystrophy type 2 (LMNA)

Emery-Dreifuss muscular dystrophy type 5 (SYNE2)

Emery-Dreifuss muscular dystrophy type 6, X-linked (FHL1)

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

Muscular dystrophy, oculopharyngeal (PABPN1)

Myasthenic syndrome due to mutation in SCN4A (SCN4A)

Myasthenic syndrome, congenital (CHRNE)

Myasthenic syndrome, congenital (CHAT)

Myasthenic syndrome, congenital (CHRNB1)

Myopathy due to Integrin 7A deficiency (ITGA7)

Myopathy rhabdomyolysis (CPT1B )

Myopathy rhabdomyolysis (ACADL)

Myopathy with fiber-type disproportion (ACTA1)

Myopathy with fiber-type disproportion (SEPN1)

Myopathy, centronuclear (DNM2)

(DNM1L)

Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy Myopathy, centronuclear (BIN1)

due to cytochrome c oxidase deficiency (COX10)

B

Endplate acetylcholinesterase deficiency (COLQ)

Epidermolysis bullosa simplex (PLEC)

Epidermolysis bullosa simplex, autosomal recessive (DST )

Fibrodysplasia ossificans progressiva (ACVR1)

Filaminopathy (FLNC)

Fukuyama congenital muscular dystrophy (FKTN)

Glycogen storage disease type II (GAA)

Hereditary myopathy with early respiratory failure (TTN)

Myopathy, distal type 1 (MYH7)

Myopathy, distal type 2 (MATR3)

Myopathy, distal type 4 (FLNC)

Myopathy, distal, with anterior tibial onset (DYSF)

Myopathy, distal, with decreased Caveolin 3 (CAV3)

Myopathy, early-onset, with fatal cardiomyopathy (TTN)

Myopathy, limb-girdle, with bone fragility (MTAP)

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss,and developmental delay (GFER)

Myopathy, myofibrillar 6 (BAG3)

Myopathy, myofibrillar, Desmin-related (DES)

Myopathy, myofibrillar, ZASP-related (LDB3)

Myosclerosis, AR (COL6A2)

Myosin storage myopathy (MYH7)

Myotilinopathy (MYOT)

Myotonia congenita (CLCN1)

Myotonic dystrophy type 1 (DMPK)

Hyperkalemic periodic paralysis (SCN4A)

Hypokalemic periodic paralysis type 1 (CACNA1S)

Hypokalemic periodic paralysis type 2 (SCN4A)

Inclusion body myopathy (GNE)

Limb-girdle muscular dystrophy, AD type 1A (MYOT)

Limb-girdle muscular dystrophy, AD type 1B (LMNA)Limb-girdle muscular dystrophy, AD type 1C (CAV3)

Limb-girdle muscular dystrophy, AD type 1E (DNAJB6)

Limb-girdle muscular dystrophy, AR type 2A (CAPN3)

Limb-girdle muscular dystrophy, AR type 2B (DYSF)Limb-girdle muscular dystrophy, AR type 2C (SGCG)

Limb-girdle muscular dystrophy, AR type 2D (SGCA)

Limb-girdle muscular dystrophy, AR type 2E (SGCB)

Limb-girdle muscular dystrophy, AR type 2F (SGCD)

Limb-girdle muscular dystrophy, AR Type 2G (TCAP) Limb-girdle muscular dystrophy, AR type 2H (TRIM32)

Limb-girdle muscular dystrophy, AR type 2I (FKRP) Limb-girdle muscular dystrophy, AR Type 2J (TTN)

Myotonic dystrophy type 2 (ZNF9)

Myotubular myopathy (MTM1)

Nemaline myopathy type 1 (TPM3)

Nemaline myopathy type 3 (ACTA1)

Nemaline Myopathy type 4 (TPM2)

Nemaline myopathy type 5 (TNNT1)

Nemaline myopathy type 6 (KBTBD13)

Nemaline myopathy type 7 (CFL2)

Neurogenic scapuloperoneal syndrome, Kaeser type (DES)

Neuronopathy X-linked distal hereditary motor (ATP7A)





**

11

2.7 - Muscular Disorders and Hereditary ALS-Forms (continued)Neutral lipid storage disease with myopathy (PNPLA2)

Nonaka myopathy (GNE)

Paramyotonia congenita of von Eulenburg (SCN4A)

Pontocerebellar hypoplasia, type 6 (RARS2)

Potassium-aggravated myotonia (SCN4A)

Rigid spine muscular dystrophy (SEPN1)

Rippling muscle disease (CAV3)

Scapuloperoneal myopathy, MYH7 related (MYH7)

Schwartz-Jampel syndrome (HSPG2)

Spheroid body myopathy (TTID)

Spinal muscular atrophy, lower extremity, autosomal dominant (DYNC1H1)

Spinal muscular atrophy, type I, II, III, IV (SMN1)

Tibial muscular dystrophy, tardive (LDB3)

Tibial muscular dystrophy, tardive (TTN)

Ullrich congenital muscular dystrophy (COL6A1)



Walker-Warburg syndrome (FKRP)

Walker-Warburg syndrome (FKTN)

Walker-Warburg syndrome (LARGE)

Walker-Warburg syndrome (ISPD)

Walker-Warburg syndrome (POMT2)

2.8 - DementiasAlzheimer disease type 1 (APP)

Alzheimer disease type 3 (PSEN1)

Alzheimer disease type 4 (PSEN2)

Alzheimers disease, early onset, autosomal dominant (SORL1)

Angelman syndrome (UBE3A)

Creutzfeldt-Jakob disease (PRNP)

Dementia, frontotemporal (GRN)

Dementia, frontotemporal (MAPT)Dementia, frontotemporal (TARDBP) Fatal familial imsomnia (PRNP)

Gerstmann-Straussler Disease (PRNP)

Menkes Disease (ATP7A)

2.9 - EpilepsiesEpilepsy, childhood absence, susceptibility to type 4 (GABRA1)

Epilepsy, childhood absence, susceptibility to type 5 (GABRB3)

Epilepsy, childhood absence, susceptibility to type 6 (CACNA1H) Epilepsy, familial temporal lobe, 5 (CPA6)

Epilepsy, idiopathic generalized, susceptibility to type 10 (GABRD)

Epilepsy, idiopathic generalized, susceptibility to type 11 (CLCN2) Epilepsy, juvenile absence, susceptibility to type 1 (EFHC1)

Epilepsy, nocturnal frontal lobe type 3 (CHRNB2)

Epilepsy, nocturnal frontal lobe type 4 (CHRNA2)

Epileptic encephalopathy, early infantile type 8 (ARHGEF9)

Familial infantile myoclonic epilepsy (TBC1D24)

Generalized epilepsy and paroxysmal dyskinesia (KCNMA1)Generalized epilepsy with febrile seizures plus type 1 (SCN1B)

Generalized epilepsy with febrile seizures plus type 2 (SCN1A)Generalized epilepsy with febrile seizures plus type 3 (GABRG2)

Generalized epilepsy with febrile seizures plus type 5 (GABRD)

B

Amish infantile epilepsy syndrome (ST3GAL5)

Autosomal dominant lateral temporal lobe epilepsy (LGI1)

Autosomal dominant nocturnal frontal lobe epilepsy type 1 (CHRNA4)

Autosomal dominant nocturnal frontal lobe epilepsy type 4 (CHRNA2)

Benign familial neonatal seizures (KCNQ2)

Convulsions, benign familial infantile, 3 (SCN2A)

Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)

Dravet syndrome (SCN1A)

Dravet syndrome (GABRG2)

Dravet syndrome (SCN2A)

Dravet Syndrome (SCN9A)

DYT18 - dystonia 18 (SLC2A1)

Early infantile epileptic encephalopathy type 1 (ARX)

Early infantile epileptic encephalopathy type 10 (PNKP)

Early infantile epileptic encephalopathy type 11 (SCN2A)

Early infantile epileptic encephalopathy type 12 (PLCB1)

Early infantile epileptic encephalopathy type 13 (SCN8A)

Early infantile epileptic encephalopathy type 2 (CDKL5)

Early infantile epileptic encephalopathy type 3 (SLC25A22)

Early infantile epileptic encephalopathy type 4 (STXBP1)

Early infantile epileptic encephalopathy type 5 (SPTAN1)

Early infantile epileptic encephalopathy type 7 (KCNQ2)

Early infantile epileptic encephalopathy type 9 (PCDH19)

Epilepsy pyridoxine-dependent (ALDH7A1)Epilepsy, benign neonatal (KCNQ3)

Epilepsy, childhood absence, JRK related (JRK)

Epilepsy, childhood absence, susceptibility to type 2 (GABRG2)

Generalized epilepsy with febrile seizures plus type 7 (SCN9A) Hyperekplexia, hereditary (GLRA1)

Hyperekplexia, hereditary (GLRB)

Hyperekplexia, hereditary (SLC6A5)

Kohlschutter Tonz syndrome (ROGDI)

Myoclonic epilepsy of lafora (EPM2A)

Myoclonic epilepsy of lafora (NHLRC1)

Progressive myoclonus epilepsy (PRICKLE1)

Progressive myoclonus epilepsy-3 (KCTD7)

SESAME syndrome (KCNJ10)

Unverricht-Lundborg disease (CSTB)

2.10 - Mitochondrial DisordersMitochondrial neurogastrointestinal encephalopathy syndrome withoutleukoencephalopathy (TYMP)

Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4)

Mitochondrial complex I deficiency (NDUFB3)


Mitochondrial DNA depletion syndrome 6 hepatocerebral type (MPV17) Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNALOPHTHALMOPLEGIA (C10ORF2)




12

2.11 - Mental RetardationAdrenoleukodystrophy (ABCD1)

Allan-Herndon-Dudley syndrome (SLC16A2)

Mental retardation, X-linked, syndromic type 14 (UPF3B)

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial

Alpha-Thalassemia Myelodysplasia Syndrome, somatic (ATRX)

Angelman syndrome-like (CDKL5)

Angelman-like syndrome (MECP2)

Arts syndrome (PRPS1)

Asperger syndrome susceptibility, X-linked type II (NLGN4)

Autism susceptibility, X-linked type 3 (MECP2)

Autism, susceptibility to, X-linked type 5 (RPL10)

Borjeson-Forssman-Lehmann syndrome (PHF6)

Brunner syndrome (MAOA)

Cataract, congenital, X-linked (NHS)

CHILD syndrome (NSDHL)

CK syndrome (NSDHL)

Coffin-Lowry syndrome (RPS6KA3)

Cornelia de Lange sydrome 2 (SMC1A)

B Creatine deficiency syndrome X-linked (SLC6A8)

Danon disease (LAMP2)

Dent disease type 2 (OCRL)

Early infantile epileptic encephalopathy type 9 (PCDH19)

Epilepsy, X-linked, with variable learning disabilities and behavior disorders

appearance (OPHN1)

Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3)

Microphtamia syndromic type 2 (BCOR)

Microphthamia syndrome type 7 (HCCS)

Mitochondrial complex I deficiency (NDUFB3)

Mitochondrial complex I deficiency (NDUFA1)

Mohr-Tranebjaerg syndrome (TIMM8A)

MR and microcephaly with pontine and cerebellar hypoplasia (CASK)

MR non-syndromic (ELK1)

MR non-syndromic (KLF8)

MR non-syndromic (NXF5)

MR non-syndromic (ZCCHC12)

MR X-linked 17/31 microduplication (HSD17B10)

MR X-linked 21/34 (IL1RAPL1)

MR X-linked syndromic 15 Cabezas type (CUL4B)

MR X-linked syndromic type 10 (HSD17B10)

MR X-linked syndromic type 16 (FGD1)

MR X-linked type 41 (GDI1)

MR X-linked type 44 (FTSJ1)

MR X-linked type 46 (ARHGEF6)

(SYN1)

Fanconi anemia, complementation group B (FANCB)

FG syndrome type 2 (FLNA)

FG syndrome type 4 (CASK)

Focal dermal hypoplasia (PORCN)

Fragile X tremor/ataxia syndrome (FMR1)

Frontometaphyseal dysplasia (FLNA)

Heterotopia, periventricular, ED variant (FLNA)

Heterotopia, periventricular, X-linked dominant (FLNA) Hoyeraal-Hreidarsson syndrome (DKC1)

Jensen syndrome (TIMM8A)

Leigh syndrome, X-linked (PDHA1)

Lesch-Nyham syndrome (HPRT1)

Lissencephaly/Subcortical laminal heteropia, X-linked (DCX)

Lowe syndrome (OCRL)

Melnick-Needles syndrome (FLNA)

Mental retardation X-linked (RAB40AL)Mental retardation, autosomal dominant 13 (DYNC1H1)

Mental retardation, autosomal dominant type 9 (KIF1A)

Mental retardation, autosomal recessive 5 (NSUN2)

Mental retardation, X-linked (NLGN4)

Mental retardation, X-linked syndromic, Christianson type (SLC9A6)

Mental retardation, X-linked syndromic, Nascimento-type (UBE2A)

Mental retardation, X-linked syndromic, Raymond type (ZDHHC9)

Mental retardation, X-linked type 19 (RPS6KA3)

Mental retardation, X-linked type 30 (PAK3)

Mental retardation, X-linked type 45 (ZNF81)

Mental retardation, X-linked type 58 (TSPAN7)Mental retardation, X-linked type 72 (RAB39B)


Mental retardation, X-linked type 91 (ZDHHC15)


Mental retardation, X-linked type 96 (SYP)


Mental retardation, X-linked, Siderius type (PHF8)

MR X-linked type 59 (AP1S2) MR X-linked type 63 (ACSL4)

MR X-linked type 88 (AGTR2)

MR X-linked type 90 (DLG3)

MR X-linked type 93 (BRWD3)

MR X-linked type 94 (GRIA3)

MR X-linked type 95 (MAGT1)

MR X-linked typev29 (ARX)

MR X-linked with epilepsy (ATP6AP2)

MR X-linked, associated with fragile site FRAXE (AFF2)

MR X-linked, nonsyndromic (KIAA2022)

MR X-Linked, syndromic type 13 (MECP2)

MR X-linked, syndromic, Claes-Jensen type (KDM5C)

MR X-linked, syndromic, Lubs type (MECP2)

MR X-linked, Turner type (HUWE1)

MR-hypotonic facies syndrome, X-linked (ATRX)

Myotubular myopathy (MTM1)

Nance-Horan syndrome (NHS)

Norrie disease (NDP)

Occipital horn syndrome (ATP7A)

Opitz G syndrome (MID1)

Opitz-Kaveggia syndrome (MED12)

Oral-facial-digital syndrome type 1 (OFD1)

Ornithine transcarbamoylase deficiency (OTC)

Partington syndrome (ARX)

Phosphoglycerate kinase 1 deficiency (PGK1)

Proud syndrome (ARX)

Renpenning syndrome (PQBP1)

Rett syndrome/preserved speech variant (MECP2)

Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2)

Simpson-Golabi-Behmel syndrome type 1 (GPC3)

Smith-Magenis syndrome (RAI1)

SPG1 (L1CAM)

Stocco dos Santos X-linked mental retardation syndrome (SHROOM4)




*

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