List of Genes (by Gene Name)

Below find a list of genes that we offer for genetic testing. The turn-around-time (TAT) is the time needed from receipt of the sample until issuing a medical report.

In principle we offer genetic testing for all known disease causing genes. If the gene you are looking for is not on the list, please contact us.

Gene	Topic	Disease	OMIM	TAT (weeks)
ABCA4	Hereditary Eye Diseases	Age-Dependent Macula Degeneration	601691	4-5
	Hereditary Eye Diseases	Autosomal Recessive Retinitis Pigmentosa	601691	4-5
	Hereditary Eye Diseases	Cone-Rod-Dystrophy	601691	4-5
	Hereditary Eye Diseases	Stargardt Disease	601691	4-5
ABCD1	Neuropathies	Adrenoleukodystrophy	300371	2-3
ABHD12	Ataxia	Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa and Cataract	613599	3-4
ACADS	Metabolic Disorders	Short Chain Acyl-CoA Dehydrogenase Deficiency	606885	2-3
ACTA1	Neuromuscular Diseases	Congenital Fiber-Type Disproportion	102610	2
ACTA1	Neuromuscular Diseases	Nemaline Myopathy	102610	2
ADSL	Metabolic Disorders	Adenylosuccinate Lyase Deficiency	608222	2-3
AGA	Metabolic Disorders	Aspartylglycosaminuria	613228	2-3
AGL	Metabolic Disorders	Glycogen Storage Disease Type 3	610860	3-4
ALG8	Metabolic Disorders	CDG Syndrome 1H	608103	2-3
ALMS1	Other / rare Diseases	Alstrom Syndrome	606844	3
ALS2	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	606352	3-4
ALS2CR8	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	607586	2-3
AMT	Metabolic Disorders	Glycine Encephalopathy	238310	2-3
ANG	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	105850	2
ANO10	Ataxia	Spinocerebellar Ataxia, autosomal-recessive 10, SCAR10	613726	2-3
ANT1	Mitochondrial Disorders	Progressive external Ophthalmoplegia	103220	2
APOE	Dementia	Alzheimer Dementia	107741	2
APP	Dementia	Alzheimer Dementia	104760
AR	Neuromuscular Diseases	Spinal and Bulbar Muscular Atrophy	313700	2
AR	Other / rare Diseases	Androgen Insensitivity Syndrome	313700	2
ARFGEF2	Epilepsy	Periventricular nodular Heterotopia	605371	4
ARHGEF9	Epilepsy	Hyperekplexia and Epilepsy	300429	2-3
ARSA	Metabolic Disorders	Metachromatic Leukodystrophy	607574	2-3
ARX	Epilepsy	Agenesis of Corpus Callosum with Abnormal Genitalia	300382	2
	Epilepsy	Partington X-Linked Mental Retardation Syndrome	300382	2
	Epilepsy	West-Syndrome	300382	2
	Epilepsy	X-Linked Lissencephaly with Ambiguous Genitalia	300382	2
ASPM	Other / rare Diseases	Primary Autosomal Recessive Microcephaly Type 5	605481	3-4
ATM	Ataxia	Ataxia Teleangiectatica (AT)	607585
ATP1A2	Familial Hemiplegic Migraine	Familial hemiplegic Migraine Type 2	182340	3
ATP1A3	Dystonia	Rapid Onset Dystonia with Parkinsonism	182350	3
ATP2A2	Hereditary Skin Diseases	Darier-White Disease	108740	3
ATP7B	Metabolic Disorders	Wilson Disease	606882	3-4
ATP13A2	Movement Disorders	Kufor-Rakeb Syndrome	610513
BBS1	Hereditary Eye Diseases	Bardet Biedl Syndrome	209901	3
BBS8	Hereditary Eye Diseases	Bardet Biedl Syndrome	608132	2-3
BBS8	Hereditary Eye Diseases	Retinitis Pigmentosa	608132	2-3
BCKDHA	Metabolic Disorders	Maple Syrup Urine Disease Type 1A	608348	2
BCKDHB	Metabolic Disorders	Maple Syrup Urine Disease	248611	2
BEST1	Hereditary Eye Diseases	Autosomal Dominant Retinitis Pigmentosa	607854	2-3
BEST1	Hereditary Eye Diseases	Autosomal Recessive Retinitis Pigmentosa	607854	2-3
C1QTNF5	Hereditary Eye Diseases	Late-Onset Retinal Degeneration	608752	1-2
C2orf71	Hereditary Eye Diseases	Retinitis Pigmentosa	613425	2
C9orf72	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	614260	2-3
C9orf72	Dementia	Frontotemporal Dementia	614260	2-3
C12orf65	Mitochondrial Disorders	Combined Oxidative Phosphorylation Deficiency 7	613541	2
CACNA1A	Ataxia	Episodic Ataxia - Type 2	601011	4-5
	Ataxia	Paroxysmal Familial Ataxia	601011	4-5
	Ataxia	Spinocerebellar Ataxia Type 6	601011	4-5
	Familial Hemiplegic Migraine	Familial hemiplegic Migraine Type 1	601011	4-5
CACNA1F	Hereditary Eye Diseases	Cone-Rod-Dystrophy	300110	4
CACNA1F	Hereditary Eye Diseases	Congenital Stationary Night-Blindness	300110	4
CACNA1H	Epilepsy	Childhood absence Epilepsy	607904	3-4
CACNB4	Ataxia	Episodic Ataxia - Type 2	601949	3
	Epilepsy	Idiopathic generalised Epilepsy (IGE)	601949	3
	Epilepsy	Juvenile Myoclonus Epilepsy (JME)	601949	3
CASK	Other / rare Diseases	CASK-Related X-Linked Mental Retardation	300172	3-4
CASK	Other / rare Diseases	FG-Syndrome	300172	3-4
CASR	Metabolic Disorders	Autosomal Dominant Hypocalcemia	601199	2
	Metabolic Disorders	Familial hypocalciuric Hypercalcemia, Type 1	601199	2
	Metabolic Disorders	Neonatal Severe Primary Hyperparathyroidism	601199	2
CDKL5	Epilepsy	Epileptic Encephalopathy, Early Infantile, 2	300203	3
	Epilepsy	West-Syndrome	300203	3
	Mental and developmental retardation	Rett Syndrome, Congenital Variant	300203	3
CEP290	Hereditary Eye Diseases	Bardet Biedl Syndrome	610142	5
	Hereditary Eye Diseases	Joubert Syndrome	610142	5
	Hereditary Eye Diseases	Leber Congenital Amaurosis	610142	5
	Hereditary Eye Diseases	Meckel Syndrome	610142	5
	Hereditary Eye Diseases	Senior-Loken Syndrome 6	610142	5
CERKL	Hereditary Eye Diseases	Retinitis Pigmentosa	608381	2-3
CHM	Hereditary Eye Diseases	Choroidal Sclerosis	300390	3-4
CHMP2B	Dementia	Frontotemporal Dementia	609512	3
CHRNA2	Epilepsy	Nocturnal frontal lobe Epilepsy	118502	2-3
CHRNA4	Epilepsy	Nocturnal frontal lobe Epilepsy	118504	2-3
CHRNB2	Epilepsy	Nocturnal frontal lobe Epilepsy	118507	2
CHRNB3	Epilepsy	Nocturnal frontal lobe Epilepsy	118508	2-3
CLCN1	Neuromuscular Diseases	Myotonia Congenita	118425	3-4
CLN6	Neurodegenerative Diseases	CLN6-Related Neuronal Ceroid-Lipofuscinosis	606725	3
CLN8	Epilepsy	Neuronal Ceroid-Lipofuscinosis	607837	2
CLRN1	Hereditary Eye Diseases	Usher Syndrome Type 3	606397	2-3
CNGA1	Hereditary Eye Diseases	Retinitis Pigmentosa	123825	2-3
CNGA3	Hereditary Eye Diseases	Achromatopsia	600053	2
CNGB3	Hereditary Eye Diseases	Achromatopsia	605080	3
CNGB3	Hereditary Eye Diseases	Stargardt Disease	605080	3
CNTNAP2	Epilepsy	Pitt-Hopkins-Like Syndrome 1	604569	3
COL2A1	Conective Tissue Disorders	Kniest Dysplasia	120140	4-5
COL2A1	Conective Tissue Disorders	Stickler Syndrome	120140	4-5
COL9A1	Conective Tissue Disorders	Multiple epiphyseal Dysplasia	120210	4-5
COL9A1	Conective Tissue Disorders	Stickler Syndrome	120210	4-5
COL9A2	Conective Tissue Disorders	Multiple epiphyseal Dysplasia	120260	4-5
COL9A3	Conective Tissue Disorders	Multiple epiphyseal Dysplasia	120270	4-5
COL10A1	Other / rare Diseases	Metaphyseal Chondrodysplasia, Schmid Type	120110	2
COL18A1	Conective Tissue Disorders	Knobloch Syndrome Type I	120328	4
COMP	Conective Tissue Disorders	Multiple epiphyseal Dysplasia	600310	3
COMP	Conective Tissue Disorders	Pseudoachondroplasia	600310	3
CP	Metabolic Disorders	Aceruloplasminemia	117700	3
CPT2	Metabolic Disorders	Carnitine Palmitoyltransferase II Deficiency	600650	2
CRB1	Hereditary Eye Diseases	Leber Congenital Amaurosis 8	604210	2-3
CRB1	Hereditary Eye Diseases	Retinitis Pigmentosa	604210	2-3
CRX	Hereditary Eye Diseases	Leber Congenital Amaurosis 7	602225	2
CRX	Hereditary Eye Diseases	Retinitis Pigmentosa	602225	2
CSF1R	Neurodegenerative Diseases	Leukoencephalopathy with spheroids	164770	3
CSTA	Hereditary Skin Diseases	atopic dermatitis	184600	2
CSTA	Hereditary Skin Diseases	Psoriasis susceptibility 5	184600	2
CSTB	Epilepsy	Progressive Myoclonus Epilepsy with Ataxia	601145	2
CTSA	Metabolic Disorders	Galactosialidosis	613111	3
CYP27A1	Metabolic Disorders	Cerebrotendinous Xanthomatosis	606530	2
DBT	Metabolic Disorders	Maple Syrup Urine Disease	248610	3
DCTN1	Movement Disorders	Perry Syndrome	601143	3-4
DFNB31	Hereditary Eye Diseases	Usher Syndrome Type 2	607084	3
DFNB59	Hereditary Deafness	DFNB59 Nonsyndromic Hearing Loss and Deafness	610219	2
DJ1	Movement Disorders	Juvenile Parkinson Syndrome	602533	2
DMD	Other / rare Diseases	Dilated Cardiomyopathy	300377	5
EFEMP1	Hereditary Eye Diseases	Doyne Honeycomb Retinal Dystrophy	601548	2-3
EFHC1	Epilepsy	Juvenile Myoclonus Epilepsy (JME)	608815	2-3
ELOVL4	Hereditary Eye Diseases	Stargardt Disease	605512	2
EPM2A	Epilepsy	Lafora Disease	607566	2
ERCC1	Hereditary Skin Diseases	Xeroderma Pigmentosum	126380	2
ERCC2	Hereditary Skin Diseases	Xeroderma Pigmentosum	126340	3-4
ERCC4	Hereditary Skin Diseases	Xeroderma Pigmentosum	133520	2-3
ERCC5	Hereditary Skin Diseases	Xeroderma Pigmentosum	133530	2-3
ERCC6	Hereditary Eye Diseases	Age-Dependent Macula Degeneration	609413	3
ERCC6	Other / rare Diseases	Cockayne Syndrome	609413	3
ERCC8	Other / rare Diseases	Cockayne Syndrome	609412	2-3
ETFA	Metabolic Disorders	Multiple Acyl-CoA Dehydrogenase Deficiency	608053	2-3
ETFB	Metabolic Disorders	Multiple Acyl-CoA Dehydrogenase Deficiency	130410	2
EXT1	Conective Tissue Disorders	Multiple Exostoses	608177	2-3
EXT2	Conective Tissue Disorders	Multiple Exostoses	608210	2-3
FA2H	Neurodegenerative Diseases	Fatty Acid Hydroxylase-Associated Neurodegeneration	611026	2
FA2H	Neurodegenerative Diseases	Spastic Paraplegia 35	611026	2
FAH	Metabolic Disorders	Tyrosinemia	276700	2-3
FBXO7	Movement Disorders	Parkinson Pyramidal Syndrome	605648	2-3
FGFR3	Other / rare Diseases	Achondroplasia	134934	2-3
	Other / rare Diseases	Crouzon Syndrome	134934	2-3
	Other / rare Diseases	Crouzon Syndrome with Acanthosis Nigricans	134934	2-3
	Other / rare Diseases	Lacrimo-Auriculo-Dento-Digital Syndrome	134934	2-3
FLNA	Epilepsy	Periventricular nodular Heterotopia	300017	4-6
FLVCR2	Other / rare Diseases	Fowler Syndrome	610865	2-3
FOLR1	Neurodegenerative Diseases	Neurodegeneration due to Cerebral Folate Transport Deficiency	136430	2
FOXC1	Hereditary Eye Diseases	Axenfeld-Rieger Syndrome	601090	2
FOXC1	Hereditary Eye Diseases	Peters Anomaly	601090	2
FOXG1	Mental and developmental retardation	Rett Syndrome, Congenital Variant	164874	2
FOXI1	Hereditary Deafness	Pendred Syndrome	601093	2
FRAS	Other / rare Diseases	FRAS1-Related Fraser Syndrome	607830
FSCN2	Hereditary Eye Diseases	Retinitis Pigmentosa	607643	2
FTL	Movement Disorders	Neurodegeneration with brain iron accumulation (NBIA)	134790	2
FUS	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	137070	2-3
FZD4	Hereditary Eye Diseases	Familial Exudative Vitreoretinopathy	604579	2
GABRA1	Epilepsy	Juvenile Myoclonus Epilepsy (JME)	137160	3
GABRD	Epilepsy	Generalised Epilepsy with febrile seizures plus (GEFS+)	137163	2-3
GABRD	Epilepsy	Juvenile Myoclonus Epilepsy (JME)	137163	2-3
GABRG2	Epilepsy	Childhood absence Epilepsy	137164	2-3
GALC	Metabolic Disorders	Krabbe Disease	606890	3
GAMT	Metabolic Disorders	Guanidinoacetate Methyltransferase Deficiency	601240	2
GBA	Movement Disorders	Parkinson Syndrome	606463
GCDH	Metabolic Disorders	Glutaricacidemia Type 1	608801	2-3
GCH1	Dystonia	Dopa-responsive Dystonia DYT5	600225	2
GCSH	Metabolic Disorders	Glycine Encephalopathy	238330	2
GDAP1	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 2H	606598	2
	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 2K	606598	2
	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 4A	606598	2
GFAP	Other / rare Diseases	Alexander Syndrome	137780	2-3
GHRHR	Other / rare Diseases	Isolated Growth Hormone Deficiency, Type IB	139191	2
GJA1	Other / rare Diseases	Hypoplastic Left Heart Syndrome	121014	2
	Other / rare Diseases	Oculodentodigital Dysplasia	121014	2
	Other / rare Diseases	Syndactyly, Type III	121014	2
GJB1	Neuropathies	Charcot-Marie-Tooth X-linked	304040	2
GJB2	Hereditary Deafness	DFNA 3 Nonsyndromic Hearing Loss and Deafness	121011	2
	Hereditary Deafness	DFNB 1 Nonsyndromic Hearing Loss and Deafness	121011	2
	Hereditary Skin Diseases	Vohwinkel Syndrome	121011	2
GJB3	Hereditary Skin Diseases	GJB3-Related Erythrokeratodermia Variabilis	603324	2
GJB6	Hereditary Deafness	DFNA 3 Nonsyndromic Hearing Loss and Deafness	604418	2
GLA	Metabolic Disorders	Fabry Disease	300644	2
GLB1	Metabolic Disorders	GM1-Gangliosidosis Type 1	611458	2-3
GLB1	Metabolic Disorders	Mucopolysaccharidosis Type 4B	611458	2-3
GLDC	Metabolic Disorders	Glycine Encephalopathy	238300	3-4
GLE1	Other / rare Diseases	Lethal Arthrogryposis with anterior horn cell disease (LAAHD)	603371	3
GLE1	Other / rare Diseases	Lethal Congenital Contracture Syndrome 1 (LCCS1)	603371	3
GLI3	Mental and developmental retardation	Greig Syndrome	165240	3
GLRA1	Epilepsy	Hyperekplexia and Epilepsy	138491	3-4
GLUT1	Epilepsy	GLUT1 Deficiency Syndrome	138140	2-3
GNAT1	Hereditary Eye Diseases	Congenital Stationary Night-Blindness	139330	2-3
GNAT2	Hereditary Eye Diseases	Achromatopsia	139340	2
GNPTAB	Metabolic Disorders	Mucolipidosis	607840	3
GNPTG	Metabolic Disorders	Mucolipidosis	607838	3
GNRHR	Metabolic Disorders	GNRHR-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	138850	2
GOSR2	Epilepsy	Epilepsy, progressive myoclonic 6	604027	2
GPR143	Other / rare Diseases	Ocular Albinism x-linked	300808	2-3
GRN	Dementia	Frontotemporal Dementia	138945	2-3
GUCA1A	Hereditary Eye Diseases	Cone-Rod-Dystrophy	600364	2
GUCY2D	Hereditary Eye Diseases	Leber Congenital Amaurosis	600179	3
HCN4	Other / rare Diseases	Sick Sinus Syndrome	605206	2-3
HEXA	Metabolic Disorders	Hexosaminidase A Deficiency	606869	2-3
HEXA	Metabolic Disorders	Tay-Sachs Disease	606869	2-3
HEXB	Metabolic Disorders	Sandhoff Disease	606873	3
HFE	Metabolic Disorders	Hemochromatosis Type I	235200	2-3
IMPDH1	Hereditary Eye Diseases	Leber Congenital Amaurosis	146690	3
IMPDH1	Hereditary Eye Diseases	Retinitis Pigmentosa	146690	3
IRF6	Other / rare Diseases	Van der Woude-Syndrome	607199	2
JAK2	Other / rare Diseases	JAK2-Related Budd-Chiari Syndrome	147796	3-4
KCNA1	Ataxia	Episodic Ataxia - Type 1	176260	2
KCNJ10	Hereditary Deafness	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome	602208	2
KCNMA1	Epilepsy	Generalised Epilepsy with paroxysmal Dyskinesia	600150	4-5
KCNQ2	Epilepsy	Benign neonatal Epilepsy	602235	2-3
KCNQ3	Epilepsy	Benign neonatal Epilepsy	602232	2-3
KCNV2	Hereditary Eye Diseases	Retinal Cone Dystrophy 3B	607604	2
KIF1B	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 2A1	605995	4
L2HGDH	Metabolic Disorders	L-2-Hydroxyglutaric Aciduria	609584	2-3
LGI1	Epilepsy	Temporal lobe Epilepsy	604619	2-3
LHON	Mitochondrial Disorders	Leber optic atrophy	535000	2
LRAT	Hereditary Eye Diseases	Leber Congenital Amaurosis	604863	2
LRAT	Hereditary Eye Diseases	Retinitis Pigmentosa	604863	2
LRP5	Hereditary Eye Diseases	Familial Exudative Vitreoretinopathy	603506	3
	Other / rare Diseases	Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus	603506	3
	Other / rare Diseases	Osteoporosis Pseudoglioma Syndrome	603506	3
	Other / rare Diseases	Van Buchem Disease, Type 2	603506	3
LRRK2	Movement Disorders	Parkinson Syndrome	609007	4-5
MAPK10	Epilepsy	Epileptic encephalopathy, Lennox-Gastaut type	602897	2-3
MAPT	Dementia	Frontotemporal Dementia	157140	2-3
MEF2C	Epilepsy	Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	600662	2-3
MFN2	Neuropathies	Charcot-Marie-Tooth Type 2A2	608507	2-3
MFSD8	Epilepsy	Neuronal Ceroid-Lipofuscinosis	611124	2-3
MGAT2	Metabolic Disorders	Congenital Disorders of Glycosylation	602616	2
MPZ	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 2I	159440	2
MPZ	Neuropathies	Charcot-Marie-Tooth Neuropathy Type 2J	159440	2
MR1	Dystonia	Paroxysmal nonkinesiogenic Dyskinesia 1 PNKD1	118800	3
MRE11A	Ataxia	Ataxia Teleangiectatica (AT)	600814	3-4
mtDNA	Mitochondrial Disorders	Mitochrondrial Genome		4-6
MTTP	Metabolic Disorders	Abetalipoproteinemia	157147	3
MYO7A	Hereditary Deafness	DFNA 3 Nonsyndromic Hearing Loss and Deafness	276903	4-5
	Hereditary Deafness	DFNB 1 Nonsyndromic Hearing Loss and Deafness	276903	4-5
	Hereditary Eye Diseases	Usher Syndrome Type 1B	276903	4-5
NDP	Hereditary Eye Diseases	Retinopathy	300658	2
NF1	Neurocutanious Disorders	Familial Spinal Neurofibromatosis	613113	4-5
	Neurocutanious Disorders	Neurofibromatosis 1	613113	4-5
	Other / rare Diseases	Neurofibromatosis-Noonan Syndrome	613113	4-5
	Other / rare Diseases	Watson Syndrome	613113	4-5
NHLRC1	Epilepsy	Lafora Disease	608072	2
NLRP3	Other / rare Diseases	Chronic Infantile Neurological Cutaneous and Articular Syndrome	606416	2
	Other / rare Diseases	Familial Cold Autoinflamma- tory Syndrome (FCAS)	606416	2
	Other / rare Diseases	Muckle-Wells Syndrome	606416	2
NOTCH3	Dementia	CADASIL	600276	4
NPC1	Metabolic Disorders	Niemann-Pick Disease Type C	607623	3
NPC2	Metabolic Disorders	Niemann-Pick Disease Type C	601015	2
NR2E3	Hereditary Eye Diseases	Goldmann-Favre-Syndrome	604485	2
NR2E3	Hereditary Eye Diseases	Retinitis Pigmentosa	604485	2
NRL	Hereditary Eye Diseases	Retinitis Pigmentosa	162080	2
OPA1	Optic Atrophies	Optic Atrophy	605290	3-4
OPA3	Optic Atrophies	Optic Atrophy	606580	2
OPTN	Hereditary Eye Diseases	Glaucoma, Open Angle	602432	2-3
OTOF	Hereditary Deafness	DFNB 1 Nonsyndromic Hearing Loss and Deafness	603681	5
PANK2	Movement Disorders	Neurodegeneration with brain iron accumulation (NBIA)	606157	2-3
PARK2	Movement Disorders	Juvenile Parkinson Syndrome	602544	2-3
PAX6	Hereditary Eye Diseases	Aniridia	607108	3
PAX6	Other / rare Diseases	Anophthalmia, PAX6 related	607108	3
PCDH19	Epilepsy	Epileptic Encephalopathy	300460	2
PDE6C	Hereditary Eye Diseases	Achromatopsia	600827	3
PDHA	Mitochondrial Disorders	Pyruvate Dehydrogenase (PDH)-Deficiency	300502	2-3
PDHB	Mitochondrial Disorders	Pyruvate Dehydrogenase (PDH)-Deficiency	179060
PEX12	Metabolic Disorders	Zellweger Syndrome	601758	2
PHF6	Other / rare Diseases	Borjeson-Forssman-Lehmann Syndrome	300414	2-3
PINK1	Movement Disorders	Juvenile Parkinson Syndrome	608309	2
PITX2	Hereditary Eye Diseases	Axenfeld-Rieger Syndrome	601542	2
PITX2	Hereditary Eye Diseases	Peters Anomaly	601542	2
PLA2G6	Movement Disorders	Neurodegeneration with brain iron accumulation (NBIA)	603604	3
PLA2G6	Movement Disorders	Parkinsonism and Dystonia	603604	3
PMP22	Neuropathies	Charcot-Marie-Tooth Type 1A	601097	2
PMP22	Neuropathies	Hereditary Neuropathy with liability to pressure palsies	601097	2
POLG	Ataxia	POLG-Related Ataxia Neuropathy Spectrum Disorders	174763	3
	Mitochondrial Disorders	Alpers Syndrome	174763	3
	Mitochondrial Disorders	Mitochondrial recessive Ataxia Syndrome	174763	3
	Mitochondrial Disorders	Progressive external Ophthalmoplegia	174763	3
PQBP1	Other / rare Diseases	Renpenning Syndrome 1	300463	2
PRCD	Hereditary Eye Diseases	Retinitis Pigmentosa	610598	2
Prickle1	Epilepsy	Progressive Myoclonus Epilepsy with Ataxia	608500	2
PRKRA	Dystonia	Dystonia 16	603424	2
PRKRA	Dystonia	Early Onset Dystonia with Parkinsonism	603424	2
PRNP	Other / rare Diseases	Genetic Prion Disease	176640	2
PROM1	Hereditary Eye Diseases	Cone-Rod-Dystrophy	604365	3-4
PRPF31	Hereditary Eye Diseases	Retinitis Pigmentosa	607301	3
PRPH2	Hereditary Eye Diseases	Adult-Onset Vitelliform Macular Dystrophy	179605	2
	Hereditary Eye Diseases	Cone-Rod-Dystrophy	179605	2
	Hereditary Eye Diseases	Patterned Dystrophy of Retinal Pigment Epithelium	179605	2
	Hereditary Eye Diseases	Retinitis Pigmentosa	179605	2
PRPS1	Hereditary Deafness	DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness	311850	2
PRPS1	Neuropathies	Charcot-Marie-Tooth Neuropathy X Type 5	311850	2
PRRT2	Epilepsy	Familial Paroxysmal Kinesigenic Dyskinesia	614386	2
PSAP	Metabolic Disorders	Gaucher disease	176801	2-3
	Metabolic Disorders	Metachromatic Leukodystrophy	176801	2-3
	Other / rare Diseases	Encephalopathy due to prosaposin deficiency	176801	2-3
PSEN1	Dementia	Alzheimer Dementia	104311
PSEN2	Dementia	Alzheimer Dementia	600759
PTCH1	Holoprosencephaly	Holoprosencephaly	601309	3
PYGM	Metabolic Disorders	Glycogen Storage Disease Type V	608455	3
RAI1	Other / rare Diseases	Smith-Magenis-Syndrome (SMS)	607642	2
RAX2	Hereditary Eye Diseases	Age-Related Macular Degeneration 6	610362	2
RAX2	Hereditary Eye Diseases	Cone-Rod-Dystrophy	610362	2
RBP3	Hereditary Eye Diseases	Retinitis Pigmentosa	180290	2
RHO	Hereditary Eye Diseases	Retinitis Pigmentosa	180380	2
ROBO3	Other / rare Diseases	Horizontal Gaze Palsy and Scoliosis	608630	4
ROM1	Hereditary Eye Diseases	Retinitis Pigmentosa	180721	2
RP1	Hereditary Eye Diseases	Retinitis Pigmentosa	603937	2-3
RP1L1	Hereditary Eye Diseases	Occult Macular Dystrophy; OCMD	608581	2
RP2	Hereditary Eye Diseases	Retinitis Pigmentosa	300757	2
RP9	Hereditary Eye Diseases	Retinitis Pigmentosa	607331	2
RPE65	Hereditary Eye Diseases	Autosomal Dominant Retinitis Pigmentosa	180069	2-3
	Hereditary Eye Diseases	Autosomal Recessive Retinitis Pigmentosa	180069	2-3
	Hereditary Eye Diseases	Leber Congenital Amaurosis 2	180069	2-3
RPGR	Hereditary Eye Diseases	Retinitis Pigmentosa	312610	3
RRM2B	Mitochondrial Disorders	Mitochondrial DNA Depletion Syndrome	604712	2-3
RS1	Hereditary Eye Diseases	X-Linked Juvenile Retinoschisis	300839	2
SACS	Ataxia	Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay	604490	4
SCN1A	Epilepsy	Generalised Epilepsy with febrile seizures plus (GEFS+)	182389	3-4
SCN1A	Familial Hemiplegic Migraine	Familial hemiplegic Migraine Type 3	182389	3-4
SCN1B	Epilepsy	Generalised Epilepsy with febrile seizures plus (GEFS+)	600235	2
SCN2A	Epilepsy	Generalised Epilepsy with febrile seizures plus (GEFS+)	182390	4
SCN4A	Other / rare Diseases	Myasthenic Syndrome	603967	3
SCN4A	Other / rare Diseases	Paramyotonia Congenita	603967	3
SCN9A	Epilepsy	Generalised Epilepsy with febrile seizures plus (GEFS+)	603415	3-4
	Hereditary Skin Diseases	Inherited Erythromelalgia	603415	3-4
	Other / rare Diseases	Congenital Indifference to Pain, Autosomal Recessive	603415	3-4
	Other / rare Diseases	Paroxysmal Extreme Pain Disorder	603415	3-4
SDHB	Tumor Diseases	Cowden-Syndrome	185470	2
	Tumor Diseases	Hereditary Paraganglioma-Pheochromocytoma Syndromes	185470	2
	Tumor Diseases	Paraganglioma and Gastric Stromal Sarcoma	185470	2
SDHD	Tumor Diseases	Cowden-Syndrome	602690	2
	Tumor Diseases	Hereditary Paraganglioma-Pheochromocytoma Syndromes	602690	2
	Tumor Diseases	Paraganglioma and Gastric Stromal Sarcoma	602690	2
SETBP1	Other / rare Diseases	Schinzel-Giedion Midface Retraction Syndrome	611060	2
SETX	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	608465	3-4
SETX	Ataxia	Spinocerebellar Ataxia with Axonal Neuropathy Type 2	608465	3-4
SGCE	Dystonia	Myclonus Dystonia	604149	2-3
SIGMAR1	ALS/Dementia	Frontotemporal dementia and/or amyotrophic lateral sclerosis	601978	2
SIL1	Ataxia	Marinesco-Sjögren-Syndrome	608005	2
SLC1A3	Ataxia	Episodic Ataxia Type 6	600111	2-3
SLC9A6	Epilepsy	X-Linked syndromic mental retardation, Christianson Type	300231	3
SLC25A22	Epilepsy	Epileptic Encephalopathy, Early Infantile, 3	609302	2
SLC26A2	Conective Tissue Disorders	Multiple epiphyseal Dysplasia	606718	2
SLC26A4	Hereditary Deafness	Pendred Syndrome	605646	3
SMC1A	Other / rare Diseases	Cornelia de Lange Syndrome	300040	3-4
SMN1	Neuromuscular Diseases	Spinal Muscular Atrophy	600354	2
SMPD1	Metabolic Disorders	Niemann-Pick Disease Type A / Type B	607608	2
SNCA	Movement Disorders	Parkinson Syndrome	163890
SOD1	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	147450	2
SPG4	Neurodegenerative Diseases	Spastic Paraplegia 4	604277	2-3
SPG7	Neurodegenerative Diseases	Spastic Paraplegia 7	602783	3
SPR	Dystonia	Dopa-Responsive Dyst. due to Sepiapterin Red. Deficiency	182125	2
SRPX2	Epilepsy	Rolandic Epilepsy	300642	2-3
STXBP1	Epilepsy	Epileptic Encephalopathy, Early Infantile, 4	602926	2-3
TAF1	Movement Disorders	X-Linked Dystonia-Parkinsonism Syndrome	313650	4
TARDBP	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	605078	2
TCOF1	Conective Tissue Disorders	Treacher Collins Syndrome	606847	3
TGFB1	Conective Tissue Disorders	Camurati Engelmann Syndrome	190180	2
TH	Dystonia	Dopa-responsive Dystonia THD	191290	2-3
THAP1	Dystonia	Primary Dystonia DYT6	609520
TIMM8A	Dystonia	Deafness-Dystonia-Syndrome Mohr-Tranebjaerg-Syndrome	300356	2
TIMM8A	Optic Atrophies	Deafness Optic Atrophy Syndrome	300356	2
TITF1	Dystonia	Benign Chorea	600635	3
TMEM1	Holoprosencephaly	Holoprosencephaly	602103	3-4
TMEM126A	Hereditary Eye Diseases	Optic Atrophy Type 7	612988	2
TOR1A	Dystonia	Primary Dystonia DYT1	605204	2
TRAPPC2	Conective Tissue Disorders	Spondyloepiphyseal Dysplasia	300202	2
TRPS1	Other / rare Diseases	Langer-Giedion Syndrome	604386	2
	Other / rare Diseases	Trichorhinophalangeal Syndrome Type I	604386	2
	Other / rare Diseases	Trichorhinophalangeal Syndrome Type III	604386	2
TRPV4	Neuropathies	Charcot-Marie-Tooth Type 2C	605427	3
TRPV4	Neuropathies	Hereditary motor and sensory Neuropathy Type 2C	605427	3
TSC1	Other / rare Diseases	Tuberous Sclerosis 1	605284	3
TSC2	Other / rare Diseases	Tuberous Sclerosis 2	191092	4
TSEN54	Mental and developmental retardation	Pontocerebellar Hypoplasia Type 2A	608755
TSPAN12	Hereditary Eye Diseases	Familial Exudative Vitreoretinopathy	613138	2
TTR	Other / rare Diseases	Hereditary transthyretin-related Amyloidosis	176300	3
Twinkle	Mitochondrial Disorders	Progressive external Ophthalmoplegia	606075	2
UBE3A	Mental and developmental retardation	Angelman Syndrome	601623	3
UBQLN2	ALS/Dementia	Frontotemporal dementia and/or amyotrophic lateral sclerosis	300264	2
USH1G	Hereditary Eye Diseases	Usher Syndrome Type 1G	607696	2
USH2A	Hereditary Eye Diseases	Usher Syndrome Type 2	608400	5
VAPB	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	605704	2
VCAN	Conective Tissue Disorders	Wagner Syndrome	118661	3
VCP	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	601023	4
VHL	Tumor Diseases	Familial Erythrocytosis 2	608537	2
VHL	Tumor Diseases	Von Hippel-Lindau Syndrome	608537	2
VPS13A	Neurodegenerative Diseases	Chorea-acanthocytosis	605978
VPS13B	Other / rare Diseases	Cohen Syndrome	607817	5
VRK1	Other / rare Diseases	Pontocerebellar Hypoplasia Type 1	602168	2-3
WFS1	Optic Atrophies	Wolfram Syndrome	606201	2-3
XK	Neuromuscular Diseases	McLeod Neuroacanthocytosis Syndrome	314850	2
ZEB2	Mental and developmental retardation	Mowat Wilson Syndrome	605802	2-3
ZIC2	Holoprosencephaly	Holoprosencephaly	603073	2
ZNF513	Hereditary Eye Diseases	Retinitis Pigmentosa	613598	2
Updated April 2012 - 299 genes