List of Genes (by Disease)

Below find a list of genes that we offer for genetic testing. We have sorted the genes by topic and disease to facilitate the search. We accepted multiple listing of genes if the particular gene causes different clinical phenotypes. 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.

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