Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AAAS	gene	AAAS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Achalasia-addisonianism-alacrimia syndrome, 231550						False	1	100;0;0	0.11	False		ENSG00000094914	ENSG00000094914	HGNC:13666													
ABAT	gene	ABAT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	GABA-transaminase deficiency, 613163						False	1	100;0;0	0.11	False		ENSG00000183044	ENSG00000183044	HGNC:23													
ABCB7	gene	ABCB7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Anemia, sideroblastic, with ataxia, 301310						False	1	100;0;0	0.11	False		ENSG00000131269	ENSG00000131269	HGNC:48													
ABCC9	gene	ABCC9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiomyopathy, dilated, 1O, 608569; Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850;  						False	1	100;0;0	0.11	False		ENSG00000069431	ENSG00000069431	HGNC:60													
ABCD1	gene	ABCD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Adrenoleukodystrophy, 300100; Adrenomyeloneuropathy, adult, 300100;  						False	1	100;0;0	0.11	False		ENSG00000101986	ENSG00000101986	HGNC:61													
ABHD12	gene	ABHD12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and; cataract, 612674;  						False	1	100;0;0	0.11	False		ENSG00000100997	ENSG00000100997	HGNC:15868													
ABHD5	gene	ABHD5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Chanarin-Dorfman syndrome, 275630						False	1	100;0;0	0.11	False		ENSG00000011198	ENSG00000011198	HGNC:21396													
ACAD9	gene	ACAD9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	ACAD9 deficiency, 611126						False	1	100;0;0	0.11	False		ENSG00000177646	ENSG00000177646	HGNC:21497													
ACADM	gene	ACADM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450						False	1	100;0;0	0.11	False		ENSG00000117054	ENSG00000117054	HGNC:89													
ACADS	gene	ACADS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470						False	1	100;0;0	0.11	False		ENSG00000122971	ENSG00000122971	HGNC:90													
ACADVL	gene	ACADVL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	VLCAD deficiency, 201475						False	1	100;0;0	0.11	False		ENSG00000072778	ENSG00000072778	HGNC:92													
ACAT1	gene	ACAT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Alpha-methylacetoacetic aciduria, 203750						False	1	100;0;0	0.11	False		ENSG00000075239	ENSG00000075239	HGNC:93													
ACOX1	gene	ACOX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisomal acyl-CoA oxidase deficiency, 264470						False	1	100;0;0	0.11	False		ENSG00000161533	ENSG00000161533	HGNC:119													
ACTB	gene	ACTB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000075624	ENSG00000075624	HGNC:132													
ACTG1	gene	ACTG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310;  						False	1	100;0;0	0.11	False		ENSG00000184009	ENSG00000184009	HGNC:144													
ACY1	gene	ACY1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aminoacylase 1 deficiency, 609924						False	1	100;0;0	0.11	False		ENSG00000243989	ENSG00000243989	HGNC:177													
ADAR	gene	ADAR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	 Aicardi-Goutieres; syndrome 6, 615010;  Dyschromatosis symmetrica hereditaria, 127400						False	1	100;0;0	0.11	False		ENSG00000160710	ENSG00000160710	HGNC:225													
ADCY5	gene	ADCY5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dyskinesia, familial, with facial myokymia, 606703						False	1	100;0;0	0.11	False		ENSG00000173175	ENSG00000173175	HGNC:236													
ADGRG1	gene	ADGRG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, bilateral frontoparietal, 606854; Polymicrogyria, bilateral perisylvian, 615752;  						False	1	100;0;0	0.11	False		ENSG00000205336	ENSG00000205336	HGNC:4512													
ADGRV1	gene	ADGRV1	Other	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Febrile seizures, familial, 4, 604352;Usher syndrome, type;2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472						False	1	100;0;0	0.11	False		ENSG00000164199	ENSG00000164199	HGNC:17416													
ADNP	gene	ADNP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant, 28, 615873						False	1	100;0;0	0.11	False		ENSG00000101126	ENSG00000101126	HGNC:15766													
ADSL	gene	ADSL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Adenylosuccinase deficiency, 103050						False	1	100;0;0	0.11	False		ENSG00000239900	ENSG00000239900	HGNC:291													
AFF2	gene	AFF2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, FRAXE type, 309548						False	1	100;0;0	0.11	False		ENSG00000155966	ENSG00000155966	HGNC:3776													
AFF4	gene	AFF4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown							False	1	100;0;0	0.11	False		ENSG00000072364	ENSG00000072364	HGNC:17869													
AFG3L2	gene	AFG3L2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive, 614487;  						False	1	100;0;0	0.11	False		ENSG00000141385	ENSG00000141385	HGNC:315													
AGA	gene	AGA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aspartylglucosaminuria, 208400						False	1	100;0;0	0.11	False		ENSG00000038002	ENSG00000038002	HGNC:318													
AGK	gene	AGK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691;  						False	1	100;0;0	0.11	False		ENSG00000006530	ENSG00000006530	HGNC:21869													
AGL	gene	AGL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease IIIa, 232400; Glycogen storage disease; IIIb, 232400;  						False	1	100;0;0	0.11	False		ENSG00000162688	ENSG00000162688	HGNC:321													
AGPS	gene	AGPS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 3, 600121						False	1	100;0;0	0.11	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AGXT	gene	AGXT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperoxaluria, primary, type 1, 259900						False	1	100;0;0	0.11	False		ENSG00000172482	ENSG00000172482	HGNC:341													
AHDC1	gene	AHDC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000126705	ENSG00000126705	HGNC:25230													
AIRE	gene	AIRE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Autoimmune polyendocrinopathy syndrome , type I, with or without; reversible metaphyseal dysplasia, 240300;  						False	1	100;0;0	0.11	False		ENSG00000160224	ENSG00000160224	HGNC:360													
AKR1D1	gene	AKR1D1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 2, 235555						False	1	100;0;0	0.11	False		ENSG00000122787	ENSG00000122787	HGNC:388													
AKT1	gene	AKT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Breast cancer, somatic, 114480; Colorectal cancer, somatic, 114500; Ovarian cancer, somatic, 167000; {Schizophrenia, susceptibility to}, 181500; Proteus syndrome, somatic, 176920; Cowden syndrome 6, 615109 						False	1	100;0;0	0.11	False		ENSG00000142208	ENSG00000142208	HGNC:391													
ALAD	gene	ALAD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Porphyria, acute hepatic, 612740; {Lead poisoning, susceptibility to}, 612740;  						False	1	100;0;0	0.11	False		ENSG00000148218	ENSG00000148218	HGNC:395													
ALDH18A1	gene	ALDH18A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIIA, 219150						False	1	100;0;0	0.11	False		ENSG00000059573	ENSG00000059573	HGNC:9722													
ALDH1A3	gene	ALDH1A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated 8, 615113						False	1	100;0;0	0.11	False		ENSG00000184254	ENSG00000184254	HGNC:409													
ALDH3A2	gene	ALDH3A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Sjogren-Larsson syndrome, 270200						False	1	100;0;0	0.11	False		ENSG00000072210	ENSG00000072210	HGNC:403													
ALDH4A1	gene	ALDH4A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperprolinemia, type II, 239510						False	1	100;0;0	0.11	False		ENSG00000159423	ENSG00000159423	HGNC:406													
ALDH5A1	gene	ALDH5A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Succinic semialdehyde dehydrogenase deficiency, 271980						False	1	100;0;0	0.11	False		ENSG00000112294	ENSG00000112294	HGNC:408													
ALDH7A1	gene	ALDH7A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, pyridoxine-dependent, 266100						False	1	100;0;0	0.11	False		ENSG00000164904	ENSG00000164904	HGNC:877													
ALDOA	gene	ALDOA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease XII, 611881						False	1	100;0;0	0.11	False		ENSG00000149925	ENSG00000149925	HGNC:414													
ALDOB	gene	ALDOB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fructose intolerance, 229600						False	1	100;0;0	0.11	False		ENSG00000136872	ENSG00000136872	HGNC:417													
ALG1	gene	ALG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ik, 608540						False	1	100;0;0	0.11	False		ENSG00000033011	ENSG00000033011	HGNC:18294													
ALG12	gene	ALG12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ig, 607143						False	1	100;0;0	0.11	False		ENSG00000182858	ENSG00000182858	HGNC:19358													
ALG3	gene	ALG3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Id, 601110						False	1	100;0;0	0.11	False		ENSG00000214160	ENSG00000214160	HGNC:23056													
ALG6	gene	ALG6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ic, 603147						False	1	100;0;0	0.11	False		ENSG00000088035	ENSG00000088035	HGNC:23157													
ALG8	gene	ALG8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ih, 608104						False	1	100;0;0	0.11	False		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALMS1	gene	ALMS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome, 203800						False	1	100;0;0	0.11	False		ENSG00000116127	ENSG00000116127	HGNC:428													
ALPL	gene	ALPL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241510; Odontohypophosphatasia, 146300; Hypophosphatasia, adult, 146300;  						False	1	100;0;0	0.11	False		ENSG00000162551	ENSG00000162551	HGNC:438													
ALS2	gene	ALS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary; lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225;  						False	1	100;0;0	0.11	False		ENSG00000003393	ENSG00000003393	HGNC:443													
ALX1	gene	ALX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Frontonasal dysplasia 3, 613456						False	1	100;0;0	0.11	False		ENSG00000180318	ENSG00000180318	HGNC:1494													
ALX3	gene	ALX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Frontonasal dysplasia 1, 136760						False	1	100;0;0	0.11	False		ENSG00000156150	ENSG00000156150	HGNC:449													
AMER1	gene	AMER1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Osteopathia striata with cranial sclerosis, 300373						False	1	100;0;0	0.11	False		ENSG00000184675	ENSG00000184675	HGNC:26837													
AMPD2	gene	AMPD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Spastic paraplegia 63, 615686; Pontocerebellar hypoplasia, type; 9, 615809;  						False	1	100;0;0	0.11	False		ENSG00000116337	ENSG00000116337	HGNC:469													
AMT	gene	AMT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899						False	1	100;0;0	0.11	False		ENSG00000145020	ENSG00000145020	HGNC:473													
ANKH	gene	ANKH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Craniometaphyseal dysplasia, 123000; Chondrocalcinosis 2, 118600;  						False	1	100;0;0	0.11	False		ENSG00000154122	ENSG00000154122	HGNC:15492													
ANKRD11	gene	ANKRD11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	KBG syndrome, 148050						False	1	100;0;0	0.11	False		ENSG00000167522	ENSG00000167522	HGNC:21316													
ANO10	gene	ANO10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 10, 613728						False	1	100;0;0	0.11	False		ENSG00000160746	ENSG00000160746	HGNC:25519													
ANO3	gene	ANO3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 24, 615034						False	1	100;0;0	0.11	False		ENSG00000134343	ENSG00000134343	HGNC:14004													
ANO5	gene	ANO5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319;  						False	1	100;0;0	0.11	False		ENSG00000171714	ENSG00000171714	HGNC:27337													
ANTXR1	gene	ANTXR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Hemangioma, capillary infantile, susceptibility to}, 602089; GAPO syndrome, 230740;  						False	1	100;0;0	0.11	False		ENSG00000169604	ENSG00000169604	HGNC:21014													
AP1S2	gene	AP1S2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic 5, 304340						False	1	100;0;0	0.11	False		ENSG00000182287	ENSG00000182287	HGNC:560													
AP4B1	gene	AP4B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 47, autosomal recessive, 614066						False	1	100;0;0	0.11	False		ENSG00000134262	ENSG00000134262	HGNC:572													
AP4E1	gene	AP4E1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 51, autosomal recessive, 613744						False	1	100;0;0	0.11	False		ENSG00000081014	ENSG00000081014	HGNC:573													
AP4M1	gene	AP4M1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 50, autosomal recessive, 612936						False	1	100;0;0	0.11	False		ENSG00000221838	ENSG00000221838	HGNC:574													
AP4S1	gene	AP4S1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 52, autosomal recessive, 614067						False	1	100;0;0	0.11	False		ENSG00000100478	ENSG00000100478	HGNC:575													
AP5Z1	gene	AP5Z1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 48, autosomal recessive, 613647						False	1	100;0;0	0.11	False		ENSG00000242802	ENSG00000242802	HGNC:22197													
APOPT1	gene	APOPT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency						False	1	100;0;0	0.11	False		ENSG00000256053	ENSG00000256053	HGNC:20492													
APTX	gene	APTX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;  						False	1	100;0;0	0.11	False		ENSG00000137074	ENSG00000137074	HGNC:15984													
AR	gene	AR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Androgen insensitivity, 300068; Spinal and bulbar muscular; atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; {Prostate cancer, susceptibility to}, 176807; Hypospadias 1, X-linked, 300633 						False	1	100;0;0	0.11	False		ENSG00000169083	ENSG00000169083	HGNC:644													
ARFGEF2	gene	ARFGEF2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Periventricular heterotopia with microcephaly, 608097						False	1	100;0;0	0.11	False		ENSG00000124198	ENSG00000124198	HGNC:15853													
ARG1	gene	ARG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Argininemia, 207800						False	1	100;0;0	0.11	False		ENSG00000118520	ENSG00000118520	HGNC:663													
ARHGEF9	gene	ARHGEF9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epileptic encephalopathy, early infantile, 8, 300607						False	1	100;0;0	0.11	False		ENSG00000131089	ENSG00000131089	HGNC:14561													
ARID1A	gene	ARID1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 14, 614607						False	1	100;0;0	0.11	False		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 12, 614562						False	1	100;0;0	0.11	False		ENSG00000049618	ENSG00000049618	HGNC:18040													
ARL6	gene	ARL6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of}, 209900; ?Retinitis pigmentosa 55, 613575;  						False	1	100;0;0	0.11	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
ARSA	gene	ARSA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Metachromatic leukodystrophy, 250100						False	1	100;0;0	0.11	False		ENSG00000100299	ENSG00000100299	HGNC:713													
ARSB	gene	ARSB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200						False	1	100;0;0	0.11	False		ENSG00000113273	ENSG00000113273	HGNC:714													
ARSE	gene	ARSE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chondrodysplasia punctata, X-linked recessive, 302950						False	1	100;0;0	0.11	False		ENSG00000157399	ENSG00000157399	HGNC:719													
ARX	gene	ARX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epileptic encephalopathy, early infantile, 1, 308350; Lissencephaly, X-linked 2, 300215; Mental retardation, X-linked 29 and others, 300419; Proud syndrome, 300004; Partington syndrome, 309510; Hydranencephaly with abnormal genitalia, 300215 						False	1	100;0;0	0.11	False		ENSG00000004848	ENSG00000004848	HGNC:18060													
ASAH1	gene	ASAH1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Farber lipogranulomatosis, 228000; Spinal muscular atrophy; with progressive myoclonic epilepsy, 159950;  						False	1	100;0;0	0.11	False		ENSG00000104763	ENSG00000104763	HGNC:735													
ASL	gene	ASL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Argininosuccinic aciduria, 207900						False	1	100;0;0	0.11	False		ENSG00000126522	ENSG00000126522	HGNC:746													
ASPA	gene	ASPA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Canavan disease, 271900						False	1	100;0;0	0.11	False		ENSG00000108381	ENSG00000108381	HGNC:756													
ASPM	gene	ASPM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 5, primary, autosomal recessive, 608716						False	1	100;0;0	0.11	False		ENSG00000066279	ENSG00000066279	HGNC:19048													
ASS1	gene	ASS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Citrullinemia, 215700						False	1	100;0;0	0.11	False		ENSG00000130707	ENSG00000130707	HGNC:758													
ASXL1	gene	ASXL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286;  						False	1	100;0;0	0.11	False		ENSG00000171456	ENSG00000171456	HGNC:18318													
ATCAY	gene	ATCAY	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia, cerebellar, Cayman type, 601238						False	1	100;0;0	0.11	False		ENSG00000167654	ENSG00000167654	HGNC:779													
ATIC	gene	ATIC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	AICA-ribosiduria due to ATIC deficiency, 608688						False	1	100;0;0	0.11	False		ENSG00000138363	ENSG00000138363	HGNC:794													
ATL1	gene	ATL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708;  						False	1	100;0;0	0.11	False		ENSG00000198513	ENSG00000198513	HGNC:11231													
ATM	gene	ATM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, 208900; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}, 114480; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic;  						False	1	100;0;0	0.11	False		ENSG00000149311	ENSG00000149311	HGNC:795													
ATN1	gene	ATN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Dentatorubro-pallidoluysian atrophy, 125370						False	1	100;0;0	0.11	False		ENSG00000111676	ENSG00000111676	HGNC:3033													
ATP13A2	gene	ATP13A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Kufor-Rakeb syndrome, 606693; ?Ceroid lipofuscinosis, neuronal, 12, 606693;  						False	1	100;0;0	0.11	False		ENSG00000159363	ENSG00000159363	HGNC:30213													
ATP1A3	gene	ATP1A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338;  						False	1	100;0;0	0.11	False		ENSG00000105409	ENSG00000105409	HGNC:801													
ATP6AP2	gene	ATP6AP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	?Mental retardation, X-linked, syndromic, Hedera type, 300423; ?Parkinsonism with spasticity, X-linked, 300911;  						False	1	100;0;0	0.11	False		ENSG00000182220	ENSG00000182220	HGNC:18305													
ATP7A	gene	ATP7A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489;  						False	1	100;0;0	0.11	False		ENSG00000165240	ENSG00000165240	HGNC:869													
ATP7B	gene	ATP7B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Wilson disease, 277900						False	1	100;0;0	0.11	False		ENSG00000123191	ENSG00000123191	HGNC:870													
ATP8B1	gene	ATP8B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, intrahepatic, of pregnancy, 1, 147480;  						False	1	100;0;0	0.11	False		ENSG00000081923	ENSG00000081923	HGNC:3706													
ATRX	gene	ATRX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Alpha-thalassemia/mental retardation syndrome, 301040; Alpha-thalassemia myelodysplasia syndrome, somatic, 300448; Mental retardation-hypotonic facies syndrome, X-linked, 309580;  						False	1	100;0;0	0.11	False		ENSG00000085224	ENSG00000085224	HGNC:886													
ATXN1	gene	ATXN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 1, 164400						False	1	100;0;0	0.11	False		ENSG00000124788	ENSG00000124788	HGNC:10548													
ATXN10	gene	ATXN10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 10, 603516						False	1	100;0;0	0.11	False		ENSG00000130638	ENSG00000130638	HGNC:10549													
ATXN2	gene	ATXN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090;  						False	1	100;0;0	0.11	False		ENSG00000204842	ENSG00000204842	HGNC:10555													
ATXN3	gene	ATXN3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000066427	ENSG00000066427	HGNC:7106													
ATXN7	gene	ATXN7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 7, 164500						False	1	100;0;0	0.11	False		ENSG00000163635	ENSG00000163635	HGNC:10560													
AUH	gene	AUH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type I, 250950						False	1	100;0;0	0.11	False		ENSG00000148090	ENSG00000148090	HGNC:890													
AUTS2	gene	AUTS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 26, 615834						False	1	100;0;0	0.11	False		ENSG00000158321	ENSG00000158321	HGNC:14262													
B3GALT6	gene	B3GALT6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, progeroid type, 2, 615349;  						False	1	100;0;0	0.11	False		ENSG00000176022	ENSG00000176022	HGNC:17978													
B4GALNT1	gene	B4GALNT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 26, autosomal recessive, 609195						False	1	100;0;0	0.11	False		ENSG00000135454	ENSG00000135454	HGNC:4117													
B4GALT7	gene	B4GALT7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, progeroid type, 1, 130070						False	1	100;0;0	0.11	False		ENSG00000027847	ENSG00000027847	HGNC:930													
BBS1	gene	BBS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 10, 615987						False	1	100;0;0	0.11	False		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 12, 615989						False	1	100;0;0	0.11	False		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, 615981						False	1	100;0;0	0.11	False		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, 615982						False	1	100;0;0	0.11	False		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 5, 615983						False	1	100;0;0	0.11	False		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, 615984						False	1	100;0;0	0.11	False		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 9, 615986						False	1	100;0;0	0.11	False		ENSG00000122507	ENSG00000122507	HGNC:30000													
BCAP31	gene	BCAP31	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, dystonia, and cerebral hypomyelination, 300475						False	1	100;0;0	0.11	False		ENSG00000185825	ENSG00000185825	HGNC:16695													
BCKDHA	gene	BCKDHA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ia, 248600						False	1	100;0;0	0.11	False		ENSG00000248098	ENSG00000248098	HGNC:986													
BCKDHB	gene	BCKDHB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ib, 248600						False	1	100;0;0	0.11	False		ENSG00000083123	ENSG00000083123	HGNC:987													
BCL11A	gene	BCL11A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual Disability						False	1	100;0;0	0.11	False		ENSG00000119866	ENSG00000119866	HGNC:13221													
BCOR	gene	BCOR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microphthalmia, syndromic 2, 300166						False	1	100;0;0	0.11	False		ENSG00000183337	ENSG00000183337	HGNC:20893													
BCS1L	gene	BCS1L	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358;  						False	1	100;0;0	0.11	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
BEAN1	gene	BEAN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 31, 117210						False	1	100;0;0	0.11	False		ENSG00000166546	ENSG00000166546	HGNC:24160													
BICD2	gene	BICD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290;  						False	1	100;0;0	0.11	False		ENSG00000185963	ENSG00000185963	HGNC:17208													
BIN1	gene	BIN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myopathy, centronuclear, autosomal recessive, 255200						False	1	100;0;0	0.11	False		ENSG00000136717	ENSG00000136717	HGNC:1052													
BLM	gene	BLM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, 210900						False	1	100;0;0	0.11	False		ENSG00000197299	ENSG00000197299	HGNC:1058													
BMP4	gene	BMP4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625;  						False	1	100;0;0	0.11	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
BMPER	gene	BMPER	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Diaphanospondylodysostosis, 608022						False	1	100;0;0	0.11	False		ENSG00000164619	ENSG00000164619	HGNC:24154													
BRAF	gene	BRAF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Melanoma, malignant, somatic; Colorectal cancer, somatic; Adenocarcinoma of lung, somatic, 211980; Nonsmall cell lung cancer, somatic; Cardiofaciocutaneous syndrome, 115150; Noonan syndrome 7, 613706; LEOPARD syndrome 3, 613707 						False	1	100;0;0	0.11	False		ENSG00000157764	ENSG00000157764	HGNC:1097													
BRAT1	gene	BRAT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Rigidity and multifocal seizure syndrome, lethal neonatal, 614498;  						False	1	100;0;0	0.11	False		ENSG00000106009	ENSG00000106009	HGNC:21701													
BRCA1	gene	BRCA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320;  						False	1	100;0;0	0.11	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3}, 613029; {Pre-B-cell acute lymphoblastic leukemia}; Pancreatic cancer, 613347						False	1	100;0;0	0.11	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
BRIP1	gene	BRIP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054;  						False	1	100;0;0	0.11	False		ENSG00000136492	ENSG00000136492	HGNC:20473													
BRWD3	gene	BRWD3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 93, 300659						False	1	100;0;0	0.11	False		ENSG00000165288	ENSG00000165288	HGNC:17342													
BSCL2	gene	BSCL2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lipodystrophy, congenital generalized, type 2, 269700; Silver; spastic paraplegia syndrome, 270685; Neuropathy, distal hereditary motor, type VA, 600794; Encephalopathy, progressive, with or without; lipodystrophy, 615924 						False	1	100;0;0	0.11	False		ENSG00000168000	ENSG00000168000	HGNC:15832													
BSND	gene	BSND	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 4a, 602522; Sensorineural deafness with; mild renal dysfunction, 602522;  						False	1	100;0;0	0.11	False		ENSG00000162399	ENSG00000162399	HGNC:16512													
BTD	gene	BTD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Biotinidase deficiency, 253260						False	1	100;0;0	0.11	False		ENSG00000169814	ENSG00000169814	HGNC:1122													
BUB1B	gene	BUB1B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Colorectal cancer, somatic, 114500; Mosaic variegated aneuploidy; syndrome 1, 257300; [Premature chromatid separation trait], 176430;  						False	1	100;0;0	0.11	False		ENSG00000156970	ENSG00000156970	HGNC:1149													
C12orf65	gene	C12orf65	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035;  						False	1	100;0;0	0.11	False		ENSG00000130921	ENSG00000130921	HGNC:26784													
C19orf12	gene	C19orf12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043;  						False	1	100;0;0	0.11	False		ENSG00000131943	ENSG00000131943	HGNC:25443													
C2orf71	gene	C2orf71	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 54, 613428						False	1	100;0;0	0.11	False		ENSG00000179270	ENSG00000179270	HGNC:34383													
C5orf42	gene	C5orf42	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 17, 614615; Orofaciodigital syndrome VI, 277170;  						False	1	100;0;0	0.11	False		ENSG00000197603	ENSG00000197603	HGNC:25801													
C9orf72	gene	C9orf72	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550;  						False	1	100;0;0	0.11	False		ENSG00000147894	ENSG00000147894	HGNC:28337													
CA2	gene	CA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730;  						False	1	100;0;0	0.11	False		ENSG00000104267	ENSG00000104267	HGNC:1373													
CA8	gene	CA8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia and mental retardation with or without; quadrupedal locomotion 3, 613227;  						False	1	100;0;0	0.11	False		ENSG00000178538	ENSG00000178538	HGNC:1382													
CACNA1A	gene	CACNA1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type; 2, 108500; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500;  						False	1	100;0;0	0.11	False		ENSG00000141837	ENSG00000141837	HGNC:1388													
CACNA1S	gene	CACNA1S	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypokalemic periodic paralysis, type 1, 170400; {Malignant; hyperthermia susceptibility 5}, 601887; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580;  						False	1	100;0;0	0.11	False		ENSG00000081248	ENSG00000081248	HGNC:1397													
CACNB4	gene	CACNB4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855;  						False	1	100;0;0	0.11	False		ENSG00000182389	ENSG00000182389	HGNC:1404													
CAMTA1	gene	CAMTA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebellar ataxia, nonprogressive, with mental retardation, 614756;  						False	1	100;0;0	0.11	False		ENSG00000171735	ENSG00000171735	HGNC:18806													
CASK	gene	CASK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation and microcephaly with pontine and cerebellar; hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422;  						False	1	100;0;0	0.11	False		ENSG00000147044	ENSG00000147044	HGNC:1497													
CASR	gene	CASR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; {Epilepsy; idiopathic generalized, susceptibility to, 8}, 612899; Hypercalciuric hypercalcemia; {Calcium, serum level of}						False	1	100;0;0	0.11	False		ENSG00000036828	ENSG00000036828	HGNC:1514													
CBL	gene	CBL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome-like disorder with or without juvenile; myelomonocytic leukemia, 613563;  						False	1	100;0;0	0.11	False		ENSG00000110395	ENSG00000110395	HGNC:1541													
CBS	gene	CBS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200;  						False	1	100;0;0	0.11	False		ENSG00000160200	ENSG00000160200	HGNC:1550													
CC2D1A	gene	CC2D1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 3, 608443						False	1	100;0;0	0.11	False		ENSG00000132024	ENSG00000132024	HGNC:30237													
CC2D2A	gene	CC2D2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; COACH syndrome, 216360;  						False	1	100;0;0	0.11	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
CCBE1	gene	CCBE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 1, 235510						False	1	100;0;0	0.11	False		ENSG00000183287	ENSG00000183287	HGNC:29426													
CCDC39	gene	CCDC39	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 14, 613807						False	1	100;0;0	0.11	False		ENSG00000145075	ENSG00000145075	HGNC:25244													
CCDC88C	gene	CCDC88C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hydrocephalus, nonsyndromic, autosomal recessive, 236600; ?Spinocerebellar ataxia 40, 616053;  						False	1	100;0;0	0.11	False		ENSG00000015133	ENSG00000015133	HGNC:19967													
CCND2	gene	CCND2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938;  						False	1	100;0;0	0.11	False		ENSG00000118971	ENSG00000118971	HGNC:1583													
CCT5	gene	CCT5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory, with spastic paraplegia, 256840						False	1	100;0;0	0.11	False		ENSG00000150753	ENSG00000150753	HGNC:1618													
CDC6	gene	CDC6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 5, 613805						False	1	100;0;0	0.11	False		ENSG00000094804	ENSG00000094804	HGNC:1744													
CDH15	gene	CDH15	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 3, 612580						False	1	100;0;0	0.11	False		ENSG00000129910	ENSG00000129910	HGNC:1754													
CDK5RAP2	gene	CDK5RAP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 3, primary, autosomal recessive, 604804						False	1	100;0;0	0.11	False		ENSG00000136861	ENSG00000136861	HGNC:18672													
CDKL5	gene	CDKL5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Epileptic encephalopathy, early infantile, 2, 300672; Angelman syndrome-like, 105830;  						False	1	100;0;0	0.11	False		ENSG00000008086	ENSG00000008086	HGNC:11411													
CDKN1C	gene	CDKN1C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732						False	1	100;0;0	0.11	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
CDON	gene	CDON	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly 11, 614226						False	1	100;0;0	0.11	False		ENSG00000064309	ENSG00000064309	HGNC:17104													
CDT1	gene	CDT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 4, 613804						False	1	100;0;0	0.11	False		ENSG00000167513	ENSG00000167513	HGNC:24576													
CENPJ	gene	CENPJ	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 6, primary, autosomal recessive, 608393; Seckel syndrome 4, 613676;  						False	1	100;0;0	0.11	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP152	gene	CEP152	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 9, primary, autosomal recessive, 614852; Seckel syndrome 5, 613823;  						False	1	100;0;0	0.11	False		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP290	gene	CEP290	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 5, 610188; Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991;  						False	1	100;0;0	0.11	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP41	gene	CEP41	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15, 614464						False	1	100;0;0	0.11	False		ENSG00000106477	ENSG00000106477	HGNC:12370													
CEP57	gene	CEP57	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mosaic variegated aneuploidy syndrome 2, 614114						False	1	100;0;0	0.11	False		ENSG00000166037	ENSG00000166037	HGNC:30794													
CHAMP1	gene	CHAMP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000198824	ENSG00000198824	HGNC:20311													
CHD2	gene	CHD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, childhood-onset, 615369						False	1	100;0;0	0.11	False		ENSG00000173575	ENSG00000173575	HGNC:1917													
CHD7	gene	CHD7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CHARGE syndrome, 214800; {Scoliosis, idiopathic 3}, 608765; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370;  						False	1	100;0;0	0.11	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
CHRNA2	gene	CHRNA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, nocturnal frontal lobe, type 4, 610353						False	1	100;0;0	0.11	False		ENSG00000120903	ENSG00000120903	HGNC:1956													
CHRNA4	gene	CHRNA4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, nocturnal frontal lobe, 1, 600513; {Nicotine; addiction, susceptibility to}, 188890;  						False	1	100;0;0	0.11	False		ENSG00000101204	ENSG00000101204	HGNC:1958													
CHRNB2	gene	CHRNB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, nocturnal frontal lobe, 3, 605375						False	1	100;0;0	0.11	False		ENSG00000160716	ENSG00000160716	HGNC:1962													
CHRNG	gene	CHRNG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myasthenia gravis, neonatal transient; Escobar syndrome, 265000; Multiple pterygium syndrome, lethal type, 253290;  						False	1	100;0;0	0.11	False		ENSG00000196811	ENSG00000196811	HGNC:1967													
CHST14	gene	CHST14	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, musculocontractural type 1, 601776						False	1	100;0;0	0.11	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
CHST3	gene	CHST3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095;  						False	1	100;0;0	0.11	False		ENSG00000122863	ENSG00000122863	HGNC:1971													
CHUK	gene	CHUK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cocoon syndrome, 613630						False	1	100;0;0	0.11	False		ENSG00000213341	ENSG00000213341	HGNC:1974													
CIB2	gene	CIB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 48, 609439; Usher syndrome, type IJ, 614869;  						False	1	100;0;0	0.11	False		ENSG00000136425	ENSG00000136425	HGNC:24579													
CISD2	gene	CISD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Wolfram syndrome 2, 604928						False	1	100;0;0	0.11	False		ENSG00000145354	ENSG00000145354	HGNC:24212													
CKAP2L	gene	CKAP2L	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000169607	ENSG00000169607	HGNC:26877													
CLCN2	gene	CLCN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; Leukoencephalopathy; with ataxia, 615651 						False	1	100;0;0	0.11	False		ENSG00000114859	ENSG00000114859	HGNC:2020													
CLDN19	gene	CLDN19	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 5, renal, with ocular involvement, 248190						False	1	100;0;0	0.11	False		ENSG00000164007	ENSG00000164007	HGNC:2040													
CLN3	gene	CLN3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000188603	ENSG00000188603	HGNC:2074													
CLN5	gene	CLN5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 5, 256731						False	1	100;0;0	0.11	False		ENSG00000102805	ENSG00000102805	HGNC:2076													
CLN6	gene	CLN6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid; lipofuscinosis, neuronal, Kufs type, adult onset, 204300;  						False	1	100;0;0	0.11	False		ENSG00000128973	ENSG00000128973	HGNC:2077													
CLN8	gene	CLN8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 8, 600143; Ceroid; lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003;  						False	1	100;0;0	0.11	False		ENSG00000182372	ENSG00000182372	HGNC:2079													
CLPB	gene	CLPB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000162129	ENSG00000162129	HGNC:30664													
CNTNAP2	gene	CNTNAP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia-focal epilepsy syndrome, 610042; {Autism; susceptibility 15}, 612100; Pitt-Hopkins like syndrome 1, 610042;  						False	1	100;0;0	0.11	False		ENSG00000174469	ENSG00000174469	HGNC:13830													
COASY	gene	COASY	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 6, 615643						False	1	100;0;0	0.11	False		ENSG00000068120	ENSG00000068120	HGNC:29932													
COG1	gene	COG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIg, 611209						False	1	100;0;0	0.11	False		ENSG00000166685	ENSG00000166685	HGNC:6545													
COG4	gene	COG4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIj, 613489						False	1	100;0;0	0.11	False		ENSG00000103051	ENSG00000103051	HGNC:18620													
COG7	gene	COG7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIe, 608779						False	1	100;0;0	0.11	False		ENSG00000168434	ENSG00000168434	HGNC:18622													
COG8	gene	COG8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIh, 611182						False	1	100;0;0	0.11	False		ENSG00000213380	ENSG00000213380	HGNC:18623													
COL11A2	gene	COL11A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal; dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 						False	1	100;0;0	0.11	False		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL1A1	gene	COL1A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteogenesis imperfecta, type I, 166200; OI type II, 166210; OI type III, 259420; OI type IV, 166220; Ehlers-Danlos syndrome, type I, 130000; Ehlers-Danlos syndrome, type VIIA, 130060; {Osteoporosis}, 166710; Caffey disease, 114000; [Bone mineral density variation QTL], 166710						False	1	100;0;0	0.11	False		ENSG00000108821	ENSG00000108821	HGNC:2197													
COL2A1	gene	COL2A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Spondyloperipheral dysplasia, 271700; SED, Namaqualand type; Osteoarthritis with mild chondrodysplasia, 604864; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Platyspondylic skeletal dysplasia, Torrance type, 151210; Otospondylomegaepiphyseal dysplasia, 215150; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600; Stickler sydrome, type I, nonsyndromic ocular, 609508; Czech dysplasia, 609162						False	1	100;0;0	0.11	False		ENSG00000139219	ENSG00000139219	HGNC:2200													
COL4A1	gene	COL4A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porencephaly 1, 175780; Brain small vessel disease with or; without ocular anomalies, 607595; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; {Hemorrhage, intracerebral, susceptibility to}, 614519 						False	1	100;0;0	0.11	False		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A2	gene	COL4A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porencephaly 2, 614483; {Hemorrhage, intracerebral, susceptibility to}, 614519;  						False	1	100;0;0	0.11	False		ENSG00000134871	ENSG00000134871	HGNC:2203													
COL4A3BP	gene	COL4A3BP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual Disability						False	1	100;0;0	0.11	False		ENSG00000113163	ENSG00000113163	HGNC:2205													
COL9A3	gene	COL9A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epiphyseal dysplasia, multiple, 3, 600969; Epiphyseal dysplasia, multiple, with myopathy; {Intervertebral disc disease, susceptibility to}, 603932;  						False	1	100;0;0	0.11	False		ENSG00000092758	ENSG00000092758	HGNC:2219													
COLEC11	gene	COLEC11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 2, 265050						False	1	100;0;0	0.11	False		ENSG00000118004	ENSG00000118004	HGNC:17213													
COQ2	gene	COQ2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 1, 607426; {Multiple system; atrophy, susceptibility to}, 146500;  						False	1	100;0;0	0.11	False		ENSG00000173085	ENSG00000173085	HGNC:25223													
COQ8A	gene	COQ8A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 4, 612016						False	1	100;0;0	0.11	False		ENSG00000163050	ENSG00000163050	HGNC:16812													
COQ9	gene	COQ9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 5, 614654						False	1	100;0;0	0.11	False		ENSG00000088682	ENSG00000088682	HGNC:25302													
COX10	gene	COX10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, 220110; Leigh syndrome; due to mitochondrial COX4 deficiency, 256000;  						False	1	100;0;0	0.11	False		ENSG00000006695	ENSG00000006695	HGNC:2260													
COX15	gene	COX15	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119;  						False	1	100;0;0	0.11	False		ENSG00000014919	ENSG00000014919	HGNC:2263													
COX6B1	gene	COX6B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex IV deficiency, 220110						False	1	100;0;0	0.11	False		ENSG00000126267	ENSG00000126267	HGNC:2280													
COX7B	gene	COX7B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial; dysmorphism and other congenital anomalies, 300887;   Mitochondrial complex IV deficiency						False	1	100;0;0	0.11	False		ENSG00000131174	ENSG00000131174	HGNC:2291													
CP	gene	CP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	[Hypoceruloplasminemia, hereditary], 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290;  						False	1	100;0;0	0.11	False		ENSG00000047457	ENSG00000047457	HGNC:2295													
CPA6	gene	CPA6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418;  						False	1	100;0;0	0.11	False		ENSG00000165078	ENSG00000165078	HGNC:17245													
CPS1	gene	CPS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Carbamoylphosphate synthetase I deficiency, 237300; {Pulmonary; hypertension, neonatal, susceptibility to}, 615371; {Venoocclusive disease after bone marrow transplantation};  						False	1	100;0;0	0.11	False		ENSG00000021826	ENSG00000021826	HGNC:2323													
CRB1	gene	CRB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa-12, autosomal recessive, 600105; Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870;  						False	1	100;0;0	0.11	False		ENSG00000134376	ENSG00000134376	HGNC:2343													
CRB2	gene	CRB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000148204	ENSG00000148204	HGNC:18688													
CREBBP	gene	CREBBP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rubinstein-Taybi syndrome, 180849						False	1	100;0;0	0.11	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
CSF1R	gene	CSF1R	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820						False	1	100;0;0	0.11	False		ENSG00000182578	ENSG00000182578	HGNC:2433													
CSPP1	gene	CSPP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 21, 615636						False	1	100;0;0	0.11	False		ENSG00000104218	ENSG00000104218	HGNC:26193													
CSTB	gene	CSTB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800;  						False	1	100;0;0	0.11	False		ENSG00000160213	ENSG00000160213	HGNC:2482													
CTC1	gene	CTC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebroretinal microangiopathy with calcifications and cysts, 612199;  						False	1	100;0;0	0.11	False		ENSG00000178971	ENSG00000178971	HGNC:26169													
CTCF	gene	CTCF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 21, 615502						False	1	100;0;0	0.11	False		ENSG00000102974	ENSG00000102974	HGNC:13723													
CTDP1	gene	CTDP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital cataracts, facial dysmorphism, and neuropathy, 604168						False	1	100;0;0	0.11	False		ENSG00000060069	ENSG00000060069	HGNC:2498													
CTNNB1	gene	CTNNB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 19, 615075; Colorectal; cancer, somatic, 114500; Pilomatricoma, somatic, 132600; Ovarian cancer, somatic, 167000; Hepatocellular carcinoma, somatic, 114550;  						False	1	100;0;0	0.11	False		ENSG00000168036	ENSG00000168036	HGNC:2514													
CTNS	gene	CTNS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cystinosis, nephropathic, 219800; Cystinosis, ocular; nonnephropathic, 219750; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, atypical nephropathic, 219800; 						False	1	100;0;0	0.11	False		ENSG00000040531	ENSG00000040531	HGNC:2518													
CTSA	gene	CTSA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Galactosialidosis, 256540						False	1	100;0;0	0.11	False		ENSG00000064601	ENSG00000064601	HGNC:9251													
CTSD	gene	CTSD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 10, 610127						False	1	100;0;0	0.11	False		ENSG00000117984	ENSG00000117984	HGNC:2529													
CUL4B	gene	CUL4B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354						False	1	100;0;0	0.11	False		ENSG00000158290	ENSG00000158290	HGNC:2555													
CUL7	gene	CUL7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 1, 273750						False	1	100;0;0	0.11	False		ENSG00000044090	ENSG00000044090	HGNC:21024													
CYC1	gene	CYC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 6, 615453						False	1	100;0;0	0.11	False		ENSG00000179091	ENSG00000179091	HGNC:2579													
CYP27A1	gene	CYP27A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Cerebrotendinous xanthomatosis, 213700						False	1	100;0;0	0.11	False		ENSG00000135929	ENSG00000135929	HGNC:2605													
CYP2U1	gene	CYP2U1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 56, autosomal recessive, 615030						False	1	100;0;0	0.11	False		ENSG00000155016	ENSG00000155016	HGNC:20582													
CYP7B1	gene	CYP7B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 3, 613812; Spastic; paraplegia 5A, autosomal recessive, 270800;  						False	1	100;0;0	0.11	False		ENSG00000172817	ENSG00000172817	HGNC:2652													
DAG1	gene	DAG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;  						False	1	100;0;0	0.11	False		ENSG00000173402	ENSG00000173402	HGNC:2666													
DARS	gene	DARS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hypomyelination with brainstem and spinal cord involvement and; leg spasticity, 615281;  						False	1	100;0;0	0.11	False		ENSG00000115866	ENSG00000115866	HGNC:2678													
DARS2	gene	DARS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with brain stem and spinal cord involvement and; lactate elevation, 611105;  						False	1	100;0;0	0.11	False		ENSG00000117593	ENSG00000117593	HGNC:25538													
DBT	gene	DBT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type II, 248600						False	1	100;0;0	0.11	False		ENSG00000137992	ENSG00000137992	HGNC:2698													
DCHS1	gene	DCHS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Van Maldergem syndrome 1, 601390						False	1	100;0;0	0.11	False		ENSG00000166341	ENSG00000166341	HGNC:13681													
DCTN1	gene	DCTN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Neuropathy, distal hereditary motor, type VIIB, 607641; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Perry syndrome, 168605;  						False	1	100;0;0	0.11	False		ENSG00000204843	ENSG00000204843	HGNC:2711													
DCX	gene	DCX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Lissencephaly, X-linked, 300067; Subcortical laminal; heteropia, X-linked, 300067;  						False	1	100;0;0	0.11	False		ENSG00000077279	ENSG00000077279	HGNC:2714													
DDC	gene	DDC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, 608643						False	1	100;0;0	0.11	False		ENSG00000132437	ENSG00000132437	HGNC:2719													
DDHD1	gene	DDHD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 28, autosomal recessive, 609340						False	1	100;0;0	0.11	False		ENSG00000100523	ENSG00000100523	HGNC:19714													
DDHD2	gene	DDHD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 54, autosomal recessive, 615033						False	1	100;0;0	0.11	False		ENSG00000085788	ENSG00000085788	HGNC:29106													
DDOST	gene	DDOST	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Congenital disorder of glycosylation, type Ir, 614507						False	1	100;0;0	0.11	False		ENSG00000244038	ENSG00000244038	HGNC:2728													
DDR2	gene	DDR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spondylometaepiphyseal dysplasia, short limb-hand type, 271665						False	1	100;0;0	0.11	False		ENSG00000162733	ENSG00000162733	HGNC:2731													
DDX11	gene	DDX11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Warsaw breakage syndrome, 613398						False	1	100;0;0	0.11	False		ENSG00000013573	ENSG00000013573	HGNC:2736													
DDX3X	gene	DDX3X	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual diability						False	1	100;0;0	0.11	False		ENSG00000215301	ENSG00000215301	HGNC:2745													
DEAF1	gene	DEAF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 24, 615828						False	1	100;0;0	0.11	False		ENSG00000177030	ENSG00000177030	HGNC:14677													
DEPDC5	gene	DEPDC5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, familial focal, with variable foci, 604364						False	1	100;0;0	0.11	False		ENSG00000100150	ENSG00000100150	HGNC:18423													
DHCR24	gene	DHCR24	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis, 602398						False	1	100;0;0	0.11	False		ENSG00000116133	ENSG00000116133	HGNC:2859													
DHCR7	gene	DHCR7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, 270400						False	1	100;0;0	0.11	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DHFR	gene	DHFR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839;  						False	1	100;0;0	0.11	False		ENSG00000228716	ENSG00000228716	HGNC:2861													
DIS3L2	gene	DIS3L2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Perlman syndrome, 267000						False	1	100;0;0	0.11	False		ENSG00000144535	ENSG00000144535	HGNC:28648													
DKC1	gene	DKC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dyskeratosis congenita, X-linked, 305000						False	1	100;0;0	0.11	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
DLAT	gene	DLAT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pyruvate dehydrogenase E2 deficiency, 245348						False	1	100;0;0	0.11	False		ENSG00000150768	ENSG00000150768	HGNC:2896													
DLD	gene	DLD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dihydrolipoamide dehydrogenase deficiency, 246900						False	1	100;0;0	0.11	False		ENSG00000091140	ENSG00000091140	HGNC:2898													
DLG3	gene	DLG3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 90, 300850						False	1	100;0;0	0.11	False		ENSG00000082458	ENSG00000082458	HGNC:2902													
DMD	gene	DMD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045;  						False	1	100;0;0	0.11	False		ENSG00000198947	ENSG00000198947	HGNC:2928													
DMP1	gene	DMP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets, AR, 241520						False	1	100;0;0	0.11	False		ENSG00000152592	ENSG00000152592	HGNC:2932													
DMPK	gene	DMPK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myotonic dystrophy 1, 160900						False	1	100;0;0	0.11	False		ENSG00000104936	ENSG00000104936	HGNC:2933													
DNM2	gene	DNM2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Lethal congenital contracture syndrome 5, 615368;  						False	1	100;0;0	0.11	False		ENSG00000079805	ENSG00000079805	HGNC:2974													
DNMT1	gene	DNMT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, hereditary sensory, type IE, 614116; Cerebellar; ataxia, deafness, and narcolepsy, autosomal dominant, 604121;  						False	1	100;0;0	0.11	False		ENSG00000130816	ENSG00000130816	HGNC:2976													
DNMT3A	gene	DNMT3A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tatton-Brown-Rahman syndrome, 615879						False	1	100;0;0	0.11	False		ENSG00000119772	ENSG00000119772	HGNC:2978													
DNMT3B	gene	DNMT3B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860;  						False	1	100;0;0	0.11	False		ENSG00000088305	ENSG00000088305	HGNC:2979													
DOCK8	gene	DOCK8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal dominant 2, 614113; Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700;  						False	1	100;0;0	0.11	False		ENSG00000107099	ENSG00000107099	HGNC:19191													
DOLK	gene	DOLK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Im, 610768						False	1	100;0;0	0.11	False		ENSG00000175283	ENSG00000175283	HGNC:23406													
DPAGT1	gene	DPAGT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, with tubular aggregates 2, 614750;  						False	1	100;0;0	0.11	False		ENSG00000172269	ENSG00000172269	HGNC:2995													
DPM1	gene	DPM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ie, 608799						False	1	100;0;0	0.11	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DRD2	gene	DRD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Dystonia, myoclonic, 159900						False	1	100;0;0	0.11	False		ENSG00000149295	ENSG00000149295	HGNC:3023													
DYM	gene	DYM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326;  						False	1	100;0;0	0.11	False		ENSG00000141627	ENSG00000141627	HGNC:21317													
DYNC1H1	gene	DYNC1H1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600;  						False	1	100;0;0	0.11	False		ENSG00000197102	ENSG00000197102	HGNC:2961													
DYRK1A	gene	DYRK1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 7, 614104						False	1	100;0;0	0.11	False		ENSG00000157540	ENSG00000157540	HGNC:3091													
EBP	gene	EBP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chondrodysplasia punctata, X-linked dominant, 302960						False	1	100;0;0	0.11	False		ENSG00000147155	ENSG00000147155	HGNC:3133													
EDNRB	gene	EDNRB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Hirschsprung disease, susceptibility to, 2}, 600155; ABCD; syndrome, 600501; Waardenburg syndrome, type 4A, 277580;  						False	1	100;0;0	0.11	False		ENSG00000136160	ENSG00000136160	HGNC:3180													
EFHC1	gene	EFHC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;  						False	1	100;0;0	0.11	False		ENSG00000096093	ENSG00000096093	HGNC:16406													
EFNB1	gene	EFNB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Craniofrontonasal dysplasia, 304110						False	1	100;0;0	0.11	False		ENSG00000090776	ENSG00000090776	HGNC:3226													
EFTUD2	gene	EFTUD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mandibulofacial dysostosis, Guion-Almeida type, 610536						False	1	100;0;0	0.11	False		ENSG00000108883	ENSG00000108883	HGNC:30858													
EGR2	gene	EGR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, congenital hypomyelinating, 1, 605253; Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900;  						False	1	100;0;0	0.11	False		ENSG00000122877	ENSG00000122877	HGNC:3239													
EHMT1	gene	EHMT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kleefstra syndrome, 610253						False	1	100;0;0	0.11	False		ENSG00000181090	ENSG00000181090	HGNC:24650													
EIF2AK3	gene	EIF2AK3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Wolcott-Rallison syndrome, 226980						False	1	100;0;0	0.11	False		ENSG00000172071	ENSG00000172071	HGNC:3255													
EIF4G1	gene	EIF4G1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Parkinson disease 18, 614251						False	1	100;0;0	0.11	False		ENSG00000114867	ENSG00000114867	HGNC:3296													
ELAC2	gene	ELAC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Prostate cancer, hereditary, 2, susceptibility to}, 614731; Combined oxidative phosphorylation deficiency 17, 615440;  						False	1	100;0;0	0.11	False		ENSG00000006744	ENSG00000006744	HGNC:14198													
ELOVL4	gene	ELOVL4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; ?Spinocerebellar ataxia 34, 133190;  						False	1	100;0;0	0.11	False		ENSG00000118402	ENSG00000118402	HGNC:14415													
ELOVL5	gene	ELOVL5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 38, 615957						False	1	100;0;0	0.11	False		ENSG00000012660	ENSG00000012660	HGNC:21308													
EP300	gene	EP300	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rubinstein-Taybi syndrome 2, 613684; Colorectal cancer, somatic, 114500;  						False	1	100;0;0	0.11	False		ENSG00000100393	ENSG00000100393	HGNC:3373													
EPG5	gene	EPG5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Vici syndrome, 242840						False	1	100;0;0	0.11	False		ENSG00000152223	ENSG00000152223	HGNC:29331													
EPM2A	gene	EPM2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 2A (Lafora), 254780						False	1	100;0;0	0.11	False		ENSG00000112425	ENSG00000112425	HGNC:3413													
ERCC1	gene	ERCC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 4, 610758						False	1	100;0;0	0.11	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
ERCC2	gene	ERCC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675; Cerebrooculofacioskeletal syndrome 2, 610756;  						False	1	100;0;0	0.11	False		ENSG00000104884	ENSG00000104884	HGNC:3434													
ERCC3	gene	ERCC3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group B, 610651; Trichothiodystrophy, 601675;  						False	1	100;0;0	0.11	False		ENSG00000163161	ENSG00000163161	HGNC:3435													
ERCC4	gene	ERCC4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group F, 278760; XFE progeroid syndrome, 610965; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;  						False	1	100;0;0	0.11	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
ERCC5	gene	ERCC5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780;  						False	1	100;0;0	0.11	False		ENSG00000134899	ENSG00000134899	HGNC:3437													
ERCC6	gene	ERCC6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type B, 133540; Cerebrooculofacioskeletal; syndrome 1, 214150; De Sanctis-Cacchione syndrome, 278800; {Macular degeneration, age-related, susceptibility to 5}, 613761; UV-sensitive; syndrome 1, 600630; {Lung cancer, susceptibility to}, 211980 						False	1	100;0;0	0.11	False		ENSG00000225830	ENSG00000225830	HGNC:3438													
ERCC6L2	gene	ERCC6L2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000182150	ENSG00000182150	HGNC:26922													
ERCC8	gene	ERCC8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type A, 216400; UV-sensitive syndrome 2, 614621;  						False	1	100;0;0	0.11	False		ENSG00000049167	ENSG00000049167	HGNC:3439													
ERLIN2	gene	ERLIN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 18, autosomal recessive, 611225						False	1	100;0;0	0.11	False		ENSG00000147475	ENSG00000147475	HGNC:1356													
ESCO2	gene	ESCO2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Roberts syndrome, 268300; SC phocomelia syndrome, 269000						False	1	100;0;0	0.11	False		ENSG00000171320	ENSG00000171320	HGNC:27230													
ETFA	gene	ETFA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIA, 231680						False	1	100;0;0	0.11	False		ENSG00000140374	ENSG00000140374	HGNC:3481													
ETFB	gene	ETFB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIB, 231680						False	1	100;0;0	0.11	False		ENSG00000105379	ENSG00000105379	HGNC:3482													
ETFDH	gene	ETFDH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIC, 231680						False	1	100;0;0	0.11	False		ENSG00000171503	ENSG00000171503	HGNC:3483													
ETHE1	gene	ETHE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ethylmalonic encephalopathy, 602473						False	1	100;0;0	0.11	False		ENSG00000105755	ENSG00000105755	HGNC:23287													
EVC	gene	EVC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530;  						False	1	100;0;0	0.11	False		ENSG00000072840	ENSG00000072840	HGNC:3497													
EVC2	gene	EVC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, 225500						False	1	100;0;0	0.11	False		ENSG00000173040	ENSG00000173040	HGNC:19747													
EXOSC3	gene	EXOSC3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1B, 614678						False	1	100;0;0	0.11	False		ENSG00000107371	ENSG00000107371	HGNC:17944													
EXT1	gene	EXT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Exostoses, multiple, type 1, 133700; Chondrosarcoma, 215300						False	1	100;0;0	0.11	False		ENSG00000182197	ENSG00000182197	HGNC:3512													
EYA1	gene	EYA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; ?Otofaciocervical syndrome, 166780 						False	1	100;0;0	0.11	False		ENSG00000104313	ENSG00000104313	HGNC:3519													
EZH2	gene	EZH2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Weaver syndrome, 277590						False	1	100;0;0	0.11	False		ENSG00000106462	ENSG00000106462	HGNC:3527													
FA2H	gene	FA2H	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 35, autosomal recessive, 612319						False	1	100;0;0	0.11	False		ENSG00000103089	ENSG00000103089	HGNC:21197													
FAH	gene	FAH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type I, 276700						False	1	100;0;0	0.11	False		ENSG00000103876	ENSG00000103876	HGNC:3579													
FAM111A	gene	FAM111A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kenny-Caffey syndrome, type 2, 127000; Gracile bone dysplasia, 602361;  						False	1	100;0;0	0.11	False		ENSG00000166801	ENSG00000166801	HGNC:24725													
FAM111B	gene	FAM111B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704;  						False	1	100;0;0	0.11	False		ENSG00000189057	ENSG00000189057	HGNC:24200													
FAM126A	gene	FAM126A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 5, 610532						False	1	100;0;0	0.11	False		ENSG00000122591	ENSG00000122591	HGNC:24587													
FAM20C	gene	FAM20C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Raine syndrome, 259775						False	1	100;0;0	0.11	False		ENSG00000177706	ENSG00000177706	HGNC:22140													
FANCA	gene	FANCA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group A, 227650						False	1	100;0;0	0.11	False		ENSG00000187741	ENSG00000187741	HGNC:3582													
FANCC	gene	FANCC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group C, 227645						False	1	100;0;0	0.11	False		ENSG00000158169	ENSG00000158169	HGNC:3584													
FANCD2	gene	FANCD2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group D2, 227646						False	1	100;0;0	0.11	False		ENSG00000144554	ENSG00000144554	HGNC:3585													
FANCE	gene	FANCE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group E, 600901						False	1	100;0;0	0.11	False		ENSG00000112039	ENSG00000112039	HGNC:3586													
FAR1	gene	FAR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000197601	ENSG00000197601	HGNC:26222													
FAT4	gene	FAT4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Van Maldergem syndrome 2, 615546; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006;  						False	1	100;0;0	0.11	False		ENSG00000196159	ENSG00000196159	HGNC:23109													
FBN1	gene	FBN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Marfan syndrome, 154700; Ectopia lentis, familial, 129600; MASS syndrome, 604308; Weill-Marchesani syndrome 2, dominant, 608328; Aortic aneurysm, ascending, and dissection; Stiff skin syndrome, 184900; Acromicric dysplasia, 102370; Geleophysic dysplasia 2, 614185						False	1	100;0;0	0.11	False		ENSG00000166147	ENSG00000166147	HGNC:3603													
FBN2	gene	FBN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Contractural arachnodactyly, congenital, 121050; Macular degeneration, early-onset, 616118;  						False	1	100;0;0	0.11	False		ENSG00000138829	ENSG00000138829	HGNC:3604													
FBP1	gene	FBP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fructose-1,6-bisphosphatase deficiency, 229700						False	1	100;0;0	0.11	False		ENSG00000165140	ENSG00000165140	HGNC:3606													
FBXL4	gene	FBXL4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471;  						False	1	100;0;0	0.11	False		ENSG00000112234	ENSG00000112234	HGNC:13601													
FBXO7	gene	FBXO7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Parkinson disease 15, autosomal recessive, 260300						False	1	100;0;0	0.11	False		ENSG00000100225	ENSG00000100225	HGNC:13586													
FGD1	gene	FGD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Aarskog-Scott syndrome, 305400; Mental retardation, X-linked; syndromic 16, 305400;  						False	1	100;0;0	0.11	False		ENSG00000102302	ENSG00000102302	HGNC:3663													
FGD4	gene	FGD4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4H, 609311						False	1	100;0;0	0.11	False		ENSG00000139132	ENSG00000139132	HGNC:19125													
FGF14	gene	FGF14	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 27, 609307						False	1	100;0;0	0.11	False		ENSG00000102466	ENSG00000102466	HGNC:3671													
FGF3	gene	FGF3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Deafness, congenital with inner ear agenesis, microtia, and; microdontia, 610706;  						False	1	100;0;0	0.11	False		ENSG00000186895	ENSG00000186895	HGNC:3681													
FGFR1	gene	FGFR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465 						False	1	100;0;0	0.11	False		ENSG00000077782	ENSG00000077782	HGNC:3688													
FGFR2	gene	FGFR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Crouzon syndrome, 123500; Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Craniosynostosis, nonspecific; Gastric cancer, somatic, 613659; Craniofacial-skeletal-dermatologic dysplasia, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Scaphocephaly and Axenfeld-Rieger anomaly; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Bent bone dysplasia syndrome, 614592						False	1	100;0;0	0.11	False		ENSG00000066468	ENSG00000066468	HGNC:3689													
FGFR3	gene	FGFR3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Achondroplasia, 100800; Hypochondroplasia, 146000; Thanatophoric dysplasia, type I, 187600; Crouzon syndrome with acanthosis nigricans, 612247; Muenke syndrome, 602849; Bladder cancer, somatic, 109800; Colorectal cancer, somatic, 114500; Cervical cancer, somatic, 603956; LADD syndrome, 149730; CATSHL syndrome, 610474; Nevus, epidermal, somatic, 162900; Thanatophoric dysplasia, type II, 187601; Spermatocytic seminoma, somatic, 273300 						False	1	100;0;0	0.11	False		ENSG00000068078	ENSG00000068078	HGNC:3690													
FH	gene	FH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fumarase deficiency, 606812; Leiomyomatosis and renal cell cancer, 150800;  						False	1	100;0;0	0.11	False		ENSG00000091483	ENSG00000091483	HGNC:3700													
FHL1	gene	FHL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Scapuloperoneal myopathy, X-linked dominant, 300695; Myopathy, X-linked, with postural muscle atrophy, 300696; Myopathy, reducing body, X-linked, severe early-onset, 300717; Myopathy, reducing body, X-linked, childhood-onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696						False	1	100;0;0	0.11	False		ENSG00000022267	ENSG00000022267	HGNC:3702													
FIG4	gene	FIG4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic lateral; sclerosis 11, 612577; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691;  						False	1	100;0;0	0.11	False		ENSG00000112367	ENSG00000112367	HGNC:16873													
FKBP14	gene	FKBP14	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;  						False	1	100;0;0	0.11	False		ENSG00000106080	ENSG00000106080	HGNC:18625													
FKRP	gene	FKRP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 						False	1	100;0;0	0.11	False		ENSG00000181027	ENSG00000181027	HGNC:17997													
FKTN	gene	FKTN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 4, 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588						False	1	100;0;0	0.11	False		ENSG00000106692	ENSG00000106692	HGNC:3622													
FLNA	gene	FLNA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Heterotopia, periventricular, 300049; Otopalatodigital syndrome, type I, 311300; Otopalatodigital syndrome, type II, 304120; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Frontometaphyseal dysplasia, 305620; Heterotopia, periventricular, ED variant, 300537; FG syndrome 2, 300321; Cardiac valvular dysplasia, X-linked, 314400; Terminal osseous dysplasia, 300244; Congenital short bowel syndrome, 300048						False	1	100;0;0	0.11	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLNB	gene	FLNB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spondylocarpotarsal synostosis syndrome, 272460; Larsen syndrome, 150250; Atelosteogenesis, type I, 108720; Atelosteogenesis, type III, 108721; Boomerang dysplasia, 112310;  						False	1	100;0;0	0.11	False		ENSG00000136068	ENSG00000136068	HGNC:3755													
FLVCR1	gene	FLVCR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia, posterior column, with retinitis pigmentosa, 609033						False	1	100;0;0	0.11	False		ENSG00000162769	ENSG00000162769	HGNC:24682													
FLVCR2	gene	FLVCR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Proliferative vasculopathy and hydraencephaly-hydrocephaly; syndrome, 225790;  						False	1	100;0;0	0.11	False		ENSG00000119686	ENSG00000119686	HGNC:20105													
FMR1	gene	FMR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fragile X syndrome, 300624; Fragile X tremor/ataxia syndrome, 300623; Premature ovarian failure 1, 311360;  						False	1	100;0;0	0.11	False		ENSG00000102081	ENSG00000102081	HGNC:3775													
FOLR1	gene	FOLR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration due to cerebral folate transport deficiency, 613068;  						False	1	100;0;0	0.11	False		ENSG00000110195	ENSG00000110195	HGNC:3791													
FOXG1	gene	FOXG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rett syndrome, congenital variant, 613454						False	1	100;0;0	0.11	False		ENSG00000176165	ENSG00000176165	HGNC:3811													
FOXP1	gene	FOXP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation with language impairment and autistic features, 613670;  						False	1	100;0;0	0.11	False		ENSG00000114861	ENSG00000114861	HGNC:3823													
FOXP3	gene	FOXP3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; {Diabetes mellitus, type I, susceptibility to}, 222100;  						False	1	100;0;0	0.11	False		ENSG00000049768	ENSG00000049768	HGNC:6106													
FOXRED1	gene	FOXRED1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial complex I deficiency, 252010;  						False	1	100;0;0	0.11	False		ENSG00000110074	ENSG00000110074	HGNC:26927													
FRAS1	gene	FRAS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome, 219000						False	1	100;0;0	0.11	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM1	gene	FREM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bifid nose with or without anorectal and renal anomalies, 608980; Manitoba oculotrichoanal syndrome, 248450; Trigonocephaly 2, 614485;  						False	1	100;0;0	0.11	False		ENSG00000164946	ENSG00000164946	HGNC:23399													
FREM2	gene	FREM2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome, 219000						False	1	100;0;0	0.11	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
FRMD7	gene	FRMD7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile; periodic alternating, X-linked, 310700;  						False	1	100;0;0	0.11	False		ENSG00000165694	ENSG00000165694	HGNC:8079													
FTCD	gene	FTCD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutamate formiminotransferase deficiency, 229100						False	1	100;0;0	0.11	False		ENSG00000160282	ENSG00000160282	HGNC:3974													
FTL	gene	FTL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperferritinemia-cataract syndrome, 600886; Neurodegeneration; with brain iron accumulation 3, 606159; L-ferritin deficiency, dominant and recessive, 615604;  						False	1	100;0;0	0.11	False		ENSG00000087086	ENSG00000087086	HGNC:3999													
FTSJ1	gene	FTSJ1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 9, 309549						False	1	100;0;0	0.11	False		ENSG00000068438	ENSG00000068438	HGNC:13254													
FUCA1	gene	FUCA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fucosidosis, 230000						False	1	100;0;0	0.11	False		ENSG00000179163	ENSG00000179163	HGNC:4006													
FXN	gene	FXN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Friedreich ataxia, 229300; Friedreich ataxia with retained; reflexes, 229300;  						False	1	100;0;0	0.11	False		ENSG00000165060	ENSG00000165060	HGNC:3951													
GAA	gene	GAA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease II, 232300						False	1	100;0;0	0.11	False		ENSG00000171298	ENSG00000171298	HGNC:4065													
GABRA1	gene	GABRA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; {Epilepsy, childhood absence, susceptibility to, 4}, 611136; Epileptic encephalopathy, early infantile, 19, 615744;  						False	1	100;0;0	0.11	False		ENSG00000022355	ENSG00000022355	HGNC:4075													
GABRB3	gene	GABRB3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Epilepsy, childhood absence, susceptibility to, 5}, 612269;  						False	1	100;0;0	0.11	False		ENSG00000166206	ENSG00000166206	HGNC:4083													
GABRG2	gene	GABRG2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Epilepsy, generalized, with febrile seizures plus, type 3, 611277; {Epilepsy, childhood absence, susceptibility to, 2}, 607681; Febrile seizures, familial, 8, 611277;  						False	1	100;0;0	0.11	False		ENSG00000113327	ENSG00000113327	HGNC:4087													
GAD1	gene	GAD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebral palsy, spastic quadriplegic, 1, 603513						False	1	100;0;0	0.11	False		ENSG00000128683	ENSG00000128683	HGNC:4092													
GALC	gene	GALC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Krabbe disease, 245200						False	1	100;0;0	0.11	False		ENSG00000054983	ENSG00000054983	HGNC:4115													
GALE	gene	GALE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Galactose epimerase deficiency, 230350						False	1	100;0;0	0.11	False		ENSG00000117308	ENSG00000117308	HGNC:4116													
GALK1	gene	GALK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Galactokinase deficiency with cataracts, 230200						False	1	100;0;0	0.11	False		ENSG00000108479	ENSG00000108479	HGNC:4118													
GALNS	gene	GALNS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis IVA, 253000						False	1	100;0;0	0.11	False		ENSG00000141012	ENSG00000141012	HGNC:4122													
GALT	gene	GALT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Galactosemia, 230400						False	1	100;0;0	0.11	False		ENSG00000213930	ENSG00000213930	HGNC:4135													
GAMT	gene	GAMT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 2, 612736						False	1	100;0;0	0.11	False		ENSG00000130005	ENSG00000130005	HGNC:4136													
GATA6	gene	GATA6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrioventricular septal defect 5, 614474; Atrial septal defect 9, 614475; Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500;  						False	1	100;0;0	0.11	False		ENSG00000141448	ENSG00000141448	HGNC:4174													
GATM	gene	GATM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 3, 612718						False	1	100;0;0	0.11	False		ENSG00000171766	ENSG00000171766	HGNC:4175													
GBA	gene	GBA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900; Gaucher disease, type III, 231000; Gaucher disease, type IIIC, 231005; Gaucher disease, perinatal lethal, 608013; {Parkinson disease, late-onset, susceptibility to}, 168600; {Lewy body dementia, susceptibility to}, 127750						False	1	100;0;0	0.11	False		ENSG00000177628	ENSG00000177628	HGNC:4177													
GBA2	gene	GBA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 46, autosomal recessive, 614409						False	1	100;0;0	0.11	False		ENSG00000070610	ENSG00000070610	HGNC:18986													
GCDH	gene	GCDH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutaricaciduria, type I, 231670						False	1	100;0;0	0.11	False		ENSG00000105607	ENSG00000105607	HGNC:4189													
GCH1	gene	GCH1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910;  						False	1	100;0;0	0.11	False		ENSG00000131979	ENSG00000131979	HGNC:4193													
GDAP1	gene	GDAP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth; disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive; intermediate, A, 608340 						False	1	100;0;0	0.11	False		ENSG00000104381	ENSG00000104381	HGNC:15968													
GDI1	gene	GDI1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 41, 300849						False	1	100;0;0	0.11	False		ENSG00000203879	ENSG00000203879	HGNC:4226													
GFAP	gene	GFAP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Alexander disease, 203450						False	1	100;0;0	0.11	False		ENSG00000131095	ENSG00000131095	HGNC:4235													
GFM1	gene	GFM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 1, 609060						False	1	100;0;0	0.11	False		ENSG00000168827	ENSG00000168827	HGNC:13780													
GHR	gene	GHR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Laron dwarfism, 262500; Short stature, 604271; {Hypercholesterolemia, familial, modifier of}, 143890; Increased responsiveness to growth hormone;  						False	1	100;0;0	0.11	False		ENSG00000112964	ENSG00000112964	HGNC:4263													
GJA1	gene	GJA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Oculodentodigital dysplasia, 164200; Syndactyly, type III, 186100; Hypoplastic left heart syndrome 1, 241550; Atrioventricular septal defect 3, 600309; Oculodentodigital dysplasia, autosomal recessive, 257850; Craniometaphyseal dysplasia, autosomal recessive, 218400 						False	1	100;0;0	0.11	False		ENSG00000152661	ENSG00000152661	HGNC:4274													
GJB1	gene	GJB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800						False	1	100;0;0	0.11	False		ENSG00000169562	ENSG00000169562	HGNC:4283													
GJC2	gene	GJC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 2, 608804; Spastic; paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480;  						False	1	100;0;0	0.11	False		ENSG00000198835	ENSG00000198835	HGNC:17494													
GK	gene	GK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Glycerol kinase deficiency, 307030						False	1	100;0;0	0.11	False		ENSG00000198814	ENSG00000198814	HGNC:4289													
GLB1	gene	GLB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010;  						False	1	100;0;0	0.11	False		ENSG00000170266	ENSG00000170266	HGNC:4298													
GLDC	gene	GLDC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899						False	1	100;0;0	0.11	False		ENSG00000178445	ENSG00000178445	HGNC:4313													
GLE1	gene	GLE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contracture syndrome 1, 253310; Arthrogryposis, lethal, with anterior horn cell disease, 611890;  						False	1	100;0;0	0.11	False		ENSG00000119392	ENSG00000119392	HGNC:4315													
GLI2	gene	GLI2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly-9, 610829; Culler-Jones syndrome, 615849;  						False	1	100;0;0	0.11	False		ENSG00000074047	ENSG00000074047	HGNC:4318													
GLI3	gene	GLI3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Greig cephalopolysyndactyly syndrome, 175700; Pallister-Hall; syndrome, 146510; Polydactyly, preaxial, type IV, 174700; Polydactyly, postaxial, types A1 and B, 174200; {Hypothalamic hamartomas, somatic}, 241800 						False	1	100;0;0	0.11	False		ENSG00000106571	ENSG00000106571	HGNC:4319													
GLIS3	gene	GLIS3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199;  						False	1	100;0;0	0.11	False		ENSG00000107249	ENSG00000107249	HGNC:28510													
GLUD1	gene	GLUD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperinsulinism-hyperammonemia syndrome, 606762						False	1	100;0;0	0.11	False		ENSG00000148672	ENSG00000148672	HGNC:4335													
GLUL	gene	GLUL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glutamine deficiency, congenital, 610015						False	1	100;0;0	0.11	False		ENSG00000135821	ENSG00000135821	HGNC:4341													
GM2A	gene	GM2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	GM2-gangliosidosis, AB variant, 272750						False	1	100;0;0	0.11	False		ENSG00000196743	ENSG00000196743	HGNC:4367													
GMPPA	gene	GMPPA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Alacrima, achalasia, and mental retardation syndrome, 615510						False	1	100;0;0	0.11	False		ENSG00000144591	ENSG00000144591	HGNC:22923													
GMPPB	gene	GMPPB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352; Muscular dystrophy-dystroglycanopathy; (congenital with mental retardation), type B, 14, 615351 						False	1	100;0;0	0.11	False		ENSG00000173540	ENSG00000173540	HGNC:22932													
GNAL	gene	GNAL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 25, 615073						False	1	100;0;0	0.11	False		ENSG00000141404	ENSG00000141404	HGNC:4388													
GNAO1	gene	GNAO1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 17, 615473						False	1	100;0;0	0.11	False		ENSG00000087258	ENSG00000087258	HGNC:4389													
GNAS	gene	GNAS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ia, 103580; McCune-Albright syndrome, somatic, mosaic; 174800; Pseudohypoparathyroidism Ic, 612462; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ib, 603233;  Acromegaly, somatic, 102200; Pseudopseudohypoparathyroidism, 612463; ACTH-independent macronodular adrenal hyperplasia, 219080						False	1	100;0;0	0.11	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
GNPAT	gene	GNPAT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia punctata, rhizomelic, type 2, 222765						False	1	100;0;0	0.11	False		ENSG00000116906	ENSG00000116906	HGNC:4416													
GNPTAB	gene	GNPTAB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis III alpha/beta, 252600; Mucolipidosis II; alpha/beta, 252500;  						False	1	100;0;0	0.11	False		ENSG00000111670	ENSG00000111670	HGNC:29670													
GNPTG	gene	GNPTG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis III gamma, 252605						False	1	100;0;0	0.11	False		ENSG00000090581	ENSG00000090581	HGNC:23026													
GNS	gene	GNS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIID, 252940						False	1	100;0;0	0.11	False		ENSG00000135677	ENSG00000135677	HGNC:4422													
GOSR2	gene	GOSR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 6, 614018						False	1	100;0;0	0.11	False		ENSG00000108433	ENSG00000108433	HGNC:4431													
GPSM2	gene	GPSM2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Chudley-McCullough syndrome, 604213						False	1	100;0;0	0.11	False		ENSG00000121957	ENSG00000121957	HGNC:29501													
GRIA3	gene	GRIA3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 94, 300699						False	1	100;0;0	0.11	False		ENSG00000125675	ENSG00000125675	HGNC:4573													
GRID2	gene	GRID2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, atuosomal recessive 18, 616204						False	1	100;0;0	0.11	False		ENSG00000152208	ENSG00000152208	HGNC:4576													
GRIK2	gene	GRIK2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive, 6, 611092						False	1	100;0;0	0.11	False		ENSG00000164418	ENSG00000164418	HGNC:4580													
GRIN2A	gene	GRIN2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, focal, with speech disorder and with or without mental; retardation, 245570;  						False	1	100;0;0	0.11	False		ENSG00000183454	ENSG00000183454	HGNC:4585													
GRIN2B	gene	GRIN2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 6, 613970; Epileptic; encephalopathy, early infantile, 27, 616139;  						False	1	100;0;0	0.11	False		ENSG00000273079	ENSG00000273079	HGNC:4586													
GRM1	gene	GRM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 13, 614831						False	1	100;0;0	0.11	False		ENSG00000152822	ENSG00000152822	HGNC:4593													
GRN	gene	GRN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485; Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706;  						False	1	100;0;0	0.11	False		ENSG00000030582	ENSG00000030582	HGNC:4601													
GTF2H5	gene	GTF2H5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy, complementation group A, 601675						False	1	100;0;0	0.11	False		ENSG00000272047	ENSG00000272047	HGNC:21157													
GTPBP3	gene	GTPBP3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000130299	ENSG00000130299	HGNC:14880													
GUSB	gene	GUSB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis VII, 253220						False	1	100;0;0	0.11	False		ENSG00000169919	ENSG00000169919	HGNC:4696													
HADH	gene	HADH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975;  						False	1	100;0;0	0.11	False		ENSG00000138796	ENSG00000138796	HGNC:4799													
HADHA	gene	HADHA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016; Fatty liver, acute, of pregnancy, 609016;  						False	1	100;0;0	0.11	False		ENSG00000084754	ENSG00000084754	HGNC:4801													
HAX1	gene	HAX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738						False	1	100;0;0	0.11	False		ENSG00000143575	ENSG00000143575	HGNC:16915													
HCCS	gene	HCCS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Microphthalmia, syndromic 7, 309801						False	1	100;0;0	0.11	False		ENSG00000004961	ENSG00000004961	HGNC:4837													
HCFC1	gene	HCFC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 3 (methylmalonic acidemia and; homocysteinemia, cblX type ), 309541;  						False	1	100;0;0	0.11	False		ENSG00000172534	ENSG00000172534	HGNC:4839													
HCN1	gene	HCN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 24, 615871						False	1	100;0;0	0.11	False		ENSG00000164588	ENSG00000164588	HGNC:4845													
HDAC4	gene	HDAC4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brachydactyly-mental retardation syndrome, 600430						False	1	100;0;0	0.11	False		ENSG00000068024	ENSG00000068024	HGNC:14063													
HDAC8	gene	HDAC8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Wilson-Turner syndrome, 309585; Cornelia de Lange syndrome 5, 300882;  						False	1	100;0;0	0.11	False		ENSG00000147099	ENSG00000147099	HGNC:13315													
HEXA	gene	HEXA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Tay-Sachs disease, 272800; GM2-gangliosidosis, several forms, 272800; [Hex A pseudodeficiency], 272800;  						False	1	100;0;0	0.11	False		ENSG00000213614	ENSG00000213614	HGNC:4878													
HEXB	gene	HEXB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Sandhoff disease, infantile, juvenile, and adult forms, 268800						False	1	100;0;0	0.11	False		ENSG00000049860	ENSG00000049860	HGNC:4879													
HGSNAT	gene	HGSNAT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930						False	1	100;0;0	0.11	False		ENSG00000165102	ENSG00000165102	HGNC:26527													
HIBCH	gene	HIBCH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620						False	1	100;0;0	0.11	False		ENSG00000198130	ENSG00000198130	HGNC:4908													
HINT1	gene	HINT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neuromyotonia and axonal neuropathy, autosomal recessive, 137200						False	1	100;0;0	0.11	False		ENSG00000169567	ENSG00000169567	HGNC:4912													
HK1	gene	HK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia due to hexokinase deficiency, 235700; Neuropathy, hereditary motor and sensory, Russe type, 605285;  						False	1	100;0;0	0.11	False		ENSG00000156515	ENSG00000156515	HGNC:4922													
HLCS	gene	HLCS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Holocarboxylase synthetase deficiency, 253270						False	1	100;0;0	0.11	False		ENSG00000159267	ENSG00000159267	HGNC:4976													
HMGCL	gene	HMGCL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	HMG-CoA lyase deficiency, 246450						False	1	100;0;0	0.11	False		ENSG00000117305	ENSG00000117305	HGNC:5005													
HMGCS2	gene	HMGCS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	HMG-CoA synthase-2 deficiency, 605911						False	1	100;0;0	0.11	False		ENSG00000134240	ENSG00000134240	HGNC:5008													
HNF1B	gene	HNF1B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; {Renal cell carcinoma}, 144700;  						False	1	100;0;0	0.11	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MODY, type I, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026;  						False	1	100;0;0	0.11	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
HNRNPU	gene	HNRNPU	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000153187	ENSG00000153187	HGNC:5048													
HOXA1	gene	HOXA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bosley-Salih-Alorainy syndrome, 601536; Athabaskan brainstem; dysgenesis syndrome, 601536;  						False	1	100;0;0	0.11	False		ENSG00000105991	ENSG00000105991	HGNC:5099													
HPRT1	gene	HPRT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lesch-Nyhan syndrome, 300322; HPRT-related gout, 300323						False	1	100;0;0	0.11	False		ENSG00000165704	ENSG00000165704	HGNC:5157													
HRAS	gene	HRAS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Bladder cancer, somatic}, 109800; Costello syndrome, 218040; {Thyroid carcinoma, follicular, somatic}, 188470; Congenital myopathy with excess of muscle spindles, 218040; {Nevus sebaceous, somatic}, 162900; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 						False	1	100;0;0	0.11	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
HSD17B10	gene	HSD17B10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	17-beta-hydroxysteroid dehydrogenase X deficiency, 300438; ?Mental retardation, X-linked syndromic 10, 300220;  						False	1	100;0;0	0.11	False		ENSG00000072506	ENSG00000072506	HGNC:4800													
HSD17B4	gene	HSD17B4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400;  						False	1	100;0;0	0.11	False		ENSG00000133835	ENSG00000133835	HGNC:5213													
HSD3B7	gene	HSD3B7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 1, 607765						False	1	100;0;0	0.11	False		ENSG00000099377	ENSG00000099377	HGNC:18324													
HSPD1	gene	HSPD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233;  						False	1	100;0;0	0.11	False		ENSG00000144381	ENSG00000144381	HGNC:5261													
HSPG2	gene	HSPG2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Schwartz-Jampel syndrome, type 1, 255800; Dyssegmental dysplasia, Silverman-Handmaker type, 224410;  						False	1	100;0;0	0.11	False		ENSG00000142798	ENSG00000142798	HGNC:5273													
HTT	gene	HTT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Huntington disease, 143100						False	1	100;0;0	0.11	False		ENSG00000197386	ENSG00000197386	HGNC:4851													
HUWE1	gene	HUWE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Turner type, 300706						False	1	100;0;0	0.11	False		ENSG00000086758	ENSG00000086758	HGNC:30892													
HYAL1	gene	HYAL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IX, 601492						False	1	100;0;0	0.11	False		ENSG00000114378	ENSG00000114378	HGNC:5320													
HYLS1	gene	HYLS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome, 236680						False	1	100;0;0	0.11	False		ENSG00000198331	ENSG00000198331	HGNC:26558													
IDS	gene	IDS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mucopolysaccharidosis II, 309900						False	1	100;0;0	0.11	False		ENSG00000010404	ENSG00000010404	HGNC:5389													
IDUA	gene	IDUA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih/s, 607015;  						False	1	100;0;0	0.11	False		ENSG00000127415	ENSG00000127415	HGNC:5391													
IER3IP1	gene	IER3IP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome, 614231						False	1	100;0;0	0.11	False		ENSG00000134049	ENSG00000134049	HGNC:18550													
IFIH1	gene	IFIH1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aicardi-Goutieres syndrome 7, 615846						False	1	100;0;0	0.11	False		ENSG00000115267	ENSG00000115267	HGNC:18873													
IFT140	gene	IFT140	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;  						False	1	100;0;0	0.11	False		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT172	gene	IFT172	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;  						False	1	100;0;0	0.11	False		ENSG00000138002	ENSG00000138002	HGNC:30391													
IGF1	gene	IGF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Growth retardation with deafness and mental retardation due to; IGF1 deficiency, 608747;  						False	1	100;0;0	0.11	False		ENSG00000017427	ENSG00000017427	HGNC:5464													
IGF1R	gene	IGF1R	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Insulin-like growth factor I, resistance to, 270450						False	1	100;0;0	0.11	False		ENSG00000140443	ENSG00000140443	HGNC:5465													
IGF2	gene	IGF2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome						False	1	100;0;0	0.11	False		ENSG00000167244	ENSG00000167244	HGNC:5466													
IGHMBP2	gene	IGHMBP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155;  						False	1	100;0;0	0.11	False		ENSG00000132740	ENSG00000132740	HGNC:5542													
IGSF1	gene	IGSF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypothyroidism, central, and testicular enlargement, 300888						False	1	100;0;0	0.11	False		ENSG00000147255	ENSG00000147255	HGNC:5948													
IKBKG	gene	IKBKG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Immunodeficiency, isolated, 300584; Immunodeficiency 33, 300636; Invasive pneumococcal disease, recurrent isolated, 2, 300640						False	1	100;0;0	0.11	False		ENSG00000073009	ENSG00000269335	HGNC:5961													
IL1RAPL1	gene	IL1RAPL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 21/34, 300143						False	1	100;0;0	0.11	False		ENSG00000169306	ENSG00000169306	HGNC:5996													
INPP5E	gene	INPP5E	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, truncal obesity, retinal dystrophy, and; micropenis, 610156; Joubert syndrome 1, 213300;  						False	1	100;0;0	0.11	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
IQSEC2	gene	IQSEC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 1, 309530						False	1	100;0;0	0.11	False		ENSG00000124313	ENSG00000124313	HGNC:29059													
ISPD	gene	ISPD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 7, 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052;  						False	1	100;0;0	0.11	False		ENSG00000214960	ENSG00000214960	HGNC:37276													
ITGA7	gene	ITGA7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204						False	1	100;0;0	0.11	False		ENSG00000135424	ENSG00000135424	HGNC:6143													
ITPR1	gene	ITPR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 15, 606658; Spinocerebellar ataxia 29, congenital nonprogressive, 117360;  						False	1	100;0;0	0.11	False		ENSG00000150995	ENSG00000150995	HGNC:6180													
IVD	gene	IVD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Isovaleric acidemia, 243500						False	1	100;0;0	0.11	False		ENSG00000128928	ENSG00000128928	HGNC:6186													
KANSL1	gene	KANSL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Koolen-De Vries syndrome, 610443						False	1	100;0;0	0.11	False		ENSG00000120071	ENSG00000120071	HGNC:24565													
KARS	gene	KARS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916;  						False	1	100;0;0	0.11	False		ENSG00000065427	ENSG00000065427	HGNC:6215													
KAT6A	gene	KAT6A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000083168	ENSG00000083168	HGNC:13013													
KAT6B	gene	KAT6B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	SBBYSS syndrome, 603736; Genitopatellar syndrome, 606170						False	1	100;0;0	0.11	False		ENSG00000156650	ENSG00000156650	HGNC:17582													
KBTBD13	gene	KBTBD13	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nemaline myopathy 6, autosomal dominant, 609273						False	1	100;0;0	0.11	False		ENSG00000234438	ENSG00000234438	HGNC:37227													
KCNA1	gene	KCNA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Episodic ataxia/myokymia syndrome, 160120						False	1	100;0;0	0.11	False		ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNA2	gene	KCNA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000177301	ENSG00000177301	HGNC:6220													
KCNB1	gene	KCNB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Epileptic encephalopathy, early infantile, 26, 616056						False	1	100;0;0	0.11	False		ENSG00000158445	ENSG00000158445	HGNC:6231													
KCNC1	gene	KCNC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Epilepsy, progressive myoclonic 7, 616187						False	1	100;0;0	0.11	False		ENSG00000129159	ENSG00000129159	HGNC:6233													
KCNC3	gene	KCNC3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 13, 605259						False	1	100;0;0	0.11	False		ENSG00000131398	ENSG00000131398	HGNC:6235													
KCND3	gene	KCND3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 19, 607346						False	1	100;0;0	0.11	False		ENSG00000171385	ENSG00000171385	HGNC:6239													
KCNJ10	gene	KCNJ10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	SESAME syndrome, 612780; Enlarged vestibular aqueduct, digenic, 600791;  						False	1	100;0;0	0.11	False		ENSG00000177807	ENSG00000177807	HGNC:6256													
KCNJ11	gene	KCNJ11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582						False	1	100;0;0	0.11	False		ENSG00000187486	ENSG00000187486	HGNC:6257													
KCNQ2	gene	KCNQ2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Seizures, benign neonatal, 1, 121200; Myokymia, 121200; Epileptic encephalopathy, early infantile, 7, 613720;  						False	1	100;0;0	0.11	False		ENSG00000075043	ENSG00000075043	HGNC:6296													
KCNQ3	gene	KCNQ3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Seizures, benign neonatal, type 2, 121201						False	1	100;0;0	0.11	False		ENSG00000184156	ENSG00000184156	HGNC:6297													
KCNT1	gene	KCNT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005;  						False	1	100;0;0	0.11	False		ENSG00000107147	ENSG00000107147	HGNC:18865													
KCTD7	gene	KCTD7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 3, with or without intracellular; inclusions, 611726;  						False	1	100;0;0	0.11	False		ENSG00000243335	ENSG00000243335	HGNC:21957													
KDM5C	gene	KDM5C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534;  						False	1	100;0;0	0.11	False		ENSG00000126012	ENSG00000126012	HGNC:11114													
KDM6A	gene	KDM6A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Kabuki syndrome 2, 300867						False	1	100;0;0	0.11	False		ENSG00000147050	ENSG00000147050	HGNC:12637													
KIF11	gene	KIF11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microcephaly with or without chorioretinopathy, lymphedema, or; mental retardation, 152950;  						False	1	100;0;0	0.11	False		ENSG00000138160	ENSG00000138160	HGNC:6388													
KIF1A	gene	KIF1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213; Mental retardation, autosomal dominant 9, 614255;  						False	1	100;0;0	0.11	False		ENSG00000130294	ENSG00000130294	HGNC:888													
KIF1BP	gene	KIF1BP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Goldberg-Shprintzen megacolon syndrome, 609460						False	1	100;0;0	0.11	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KIF1C	gene	KIF1C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia 2, autosomal recessive, 611302						False	1	100;0;0	0.11	False		ENSG00000129250	ENSG00000129250	HGNC:6317													
KIF5A	gene	KIF5A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 10, autosomal dominant, 604187						False	1	100;0;0	0.11	False		ENSG00000155980	ENSG00000155980	HGNC:6323													
KIF7	gene	KIF7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome 2, 614120; Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990;  						False	1	100;0;0	0.11	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
KIRREL3	gene	KIRREL3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 4, 612581						False	1	100;0;0	0.11	False		ENSG00000149571	ENSG00000149571	HGNC:23204													
KLHL40	gene	KLHL40	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 8, autosomal recessive, 615348						False	1	100;0;0	0.11	False		ENSG00000157119	ENSG00000157119	HGNC:30372													
KMT2A	gene	KMT2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wiedemann-Steiner syndrome, 605130; Leukemia, myeloid/lymphoid or mixed-lineage;  						False	1	100;0;0	0.11	False		ENSG00000118058	ENSG00000118058	HGNC:7132													
KMT2B	gene	KMT2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia						False	1	100;0;0	0.11	False		ENSG00000272333	ENSG00000272333	HGNC:15840													
KMT2D	gene	KMT2D	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Kabuki syndrome 1, 147920						False	1	100;0;0	0.11	False		ENSG00000167548	ENSG00000167548	HGNC:7133													
KNL1	gene	KNL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 4, primary, autosomal recessive, 604321						False	1	100;0;0	0.11	False		ENSG00000137812	ENSG00000137812	HGNC:24054													
KRAS	gene	KRAS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lung cancer, somatic, 211980; Bladder cancer, somatic, 109800; Pancreatic carcinoma, somatic, 260350; Gastric cancer, somatic, 137215; Leukemia, acute myelogenous; Noonan syndrome 3, 609942; Cardiofaciocutaneous syndrome 2, 615278; Breast cancer, somatic, 114480; SFM syndrome, somatic mosaic, 163200						False	1	100;0;0	0.11	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
KRIT1	gene	KRIT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations-1, 116860; Hyperkeratotic; cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cavernous malformations of CNS and retina, 116860; 						False	1	100;0;0	0.11	False		ENSG00000001631	ENSG00000001631	HGNC:1573													
L1CAM	gene	L1CAM	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydrocephalus due to aqueductal stenosis, 307000; MASA syndrome, 303350; CRASH syndrome, 303350; Hydrocephalus with Hirschsprung disease, 307000; Hydrocephalus with congenital idiopathic intestinal; pseudoobstruction, 307000; Corpus callosum, partial agenesis of, 304100 						False	1	100;0;0	0.11	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
L2HGDH	gene	L2HGDH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	L-2-hydroxyglutaric aciduria, 236792						False	1	100;0;0	0.11	False		ENSG00000087299	ENSG00000087299	HGNC:20499													
LAMA1	gene	LAMA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Poretti-Boltshauser syndrome, 615960						False	1	100;0;0	0.11	False		ENSG00000101680	ENSG00000101680	HGNC:6481													
LAMA2	gene	LAMA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855;  						False	1	100;0;0	0.11	False		ENSG00000196569	ENSG00000196569	HGNC:6482													
LAMC3	gene	LAMC3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cortical malformations, occipital, 614115						False	1	100;0;0	0.11	False		ENSG00000050555	ENSG00000050555	HGNC:6494													
LAMP2	gene	LAMP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Danon disease, 300257						False	1	100;0;0	0.11	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
LARGE1	gene	LARGE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 6, 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840;  						False	1	100;0;0	0.11	False		ENSG00000133424	ENSG00000133424	HGNC:6511													
LBR	gene	LBR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pelger-Huet anomaly, 169400; Greenberg skeletal dysplasia, 215140; ?Reynolds syndrome, 613471;  						False	1	100;0;0	0.11	False		ENSG00000143815	ENSG00000143815	HGNC:6518													
LDB3	gene	LDB3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, dilated 1C, 601493; Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493;  						False	1	100;0;0	0.11	False		ENSG00000122367	ENSG00000122367	HGNC:15710													
LGI1	gene	LGI1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Epilepsy, familial temporal lobe, 1, 600512						False	1	100;0;0	0.11	False		ENSG00000108231	ENSG00000108231	HGNC:6572													
LHX3	gene	LHX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 3, 221750						False	1	100;0;0	0.11	False		ENSG00000107187	ENSG00000107187	HGNC:6595													
LHX4	gene	LHX4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pituitary hormone deficiency, combined, 4, 262700						False	1	100;0;0	0.11	False		ENSG00000121454	ENSG00000121454	HGNC:21734													
LIG4	gene	LIG4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	LIG4 syndrome, 606593; {Multiple myeloma, resistance to}, 254500;  						False	1	100;0;0	0.11	False		ENSG00000174405	ENSG00000174405	HGNC:6601													
LITAF	gene	LITAF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, type 1C, 601098						False	1	100;0;0	0.11	False		ENSG00000189067	ENSG00000189067	HGNC:16841													
LMBRD1	gene	LMBRD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblF type, 277380						False	1	100;0;0	0.11	False		ENSG00000168216	ENSG00000168216	HGNC:23038													
LMNA	gene	LMNA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Emery-Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A, 115200; Lipodystrophy, familial partial, 2, 151660; Emery-Dreifuss muscular dystrophy 3, AR, 181350; Charcot-Marie-Tooth disease, type 2B1, 605588; Muscular dystrophy, congenital, 613205; Muscular dystrophy, limb-girdle, type 1B, 159001; Mandibuloacral dysplasia, 248370; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112						False	1	100;0;0	0.11	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LRP2	gene	LRP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Donnai-Barrow syndrome, 222448						False	1	100;0;0	0.11	False		ENSG00000081479	ENSG00000081479	HGNC:6694													
LRP5	gene	LRP5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Osteoporosis-pseudoglioma syndrome, 259770; [Bone mineral density; variability 1], 601884; Hyperostosis, endosteal, 144750; van Buchem disease, type 2, 607636; Osteosclerosis, 144750; {Osteoporosis}, 166710; Exudative vitreoretinopathy 4, 601813; Osteopetrosis, autosomal dominant 1, 607634						False	1	100;0;0	0.11	False		ENSG00000162337	ENSG00000162337	HGNC:6697													
LRPPRC	gene	LRPPRC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, French-Canadian type, 220111						False	1	100;0;0	0.11	False		ENSG00000138095	ENSG00000138095	HGNC:15714													
LRRK2	gene	LRRK2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Parkinson disease 8, 607060						False	1	100;0;0	0.11	False		ENSG00000188906	ENSG00000188906	HGNC:18618													
LYST	gene	LYST	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Chediak-Higashi syndrome, 214500						False	1	100;0;0	0.11	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
MAB21L2	gene	MAB21L2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Microphthalmia, syndromic 14, 615877						False	1	100;0;0	0.11	False		ENSG00000181541	ENSG00000181541	HGNC:6758													
MAF	gene	MAF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cataract 21, multiple types, 610202						False	1	100;0;0	0.11	False		ENSG00000178573	ENSG00000178573	HGNC:6776													
MAGEL2	gene	MAGEL2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Prader-Willi-like syndrome, 615547						False	1	100;0;0	0.11	False		ENSG00000254585	ENSG00000254585	HGNC:6814													
MAN2B1	gene	MAN2B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, alpha-, types I and II, 248500						False	1	100;0;0	0.11	False		ENSG00000104774	ENSG00000104774	HGNC:6826													
MANBA	gene	MANBA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, beta, 248510						False	1	100;0;0	0.11	False		ENSG00000109323	ENSG00000109323	HGNC:6831													
MAOA	gene	MAOA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Brunner syndrome, 300615						False	1	100;0;0	0.11	False		ENSG00000189221	ENSG00000189221	HGNC:6833													
MAP2K1	gene	MAP2K1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiofaciocutaneous syndrome 3, 615279						False	1	100;0;0	0.11	False		ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiofaciocutaneous syndrome 4, 615280						False	1	100;0;0	0.11	False		ENSG00000126934	ENSG00000126934	HGNC:6842													
MAPT	gene	MAPT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dementia, frontotemporal, with or without parkinsonism, 600274; Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600 						False	1	100;0;0	0.11	False		ENSG00000186868	ENSG00000186868	HGNC:6893													
MARS2	gene	MARS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia 3, autosomal recessive, 611390						False	1	100;0;0	0.11	False		ENSG00000247626	ENSG00000247626	HGNC:25133													
MASP1	gene	MASP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 1, 257920						False	1	100;0;0	0.11	False		ENSG00000127241	ENSG00000127241	HGNC:6901													
MC2R	gene	MC2R	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200						False	1	100;0;0	0.11	False		ENSG00000185231	ENSG00000185231	HGNC:6930													
MCCC1	gene	MCCC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200						False	1	100;0;0	0.11	False		ENSG00000078070	ENSG00000078070	HGNC:6936													
MCCC2	gene	MCCC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210						False	1	100;0;0	0.11	False		ENSG00000131844	ENSG00000131844	HGNC:6937													
MCEE	gene	MCEE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonyl-CoA epimerase deficiency, 251120						False	1	100;0;0	0.11	False		ENSG00000124370	ENSG00000124370	HGNC:16732													
MCOLN1	gene	MCOLN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis IV, 252650						False	1	100;0;0	0.11	False		ENSG00000090674	ENSG00000090674	HGNC:13356													
MCPH1	gene	MCPH1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 1, primary, autosomal recessive, 251200						False	1	100;0;0	0.11	False		ENSG00000147316	ENSG00000147316	HGNC:6954													
MECP2	gene	MECP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Rett syndrome, 312750; Mental retardation, X-linked, syndromic; 13, 300055; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; {Autism susceptibility, X-linked; 3}, 300496; Angelman syndrome, 105830; Mental retardation, X-linked syndromic, Lubs type, 300260						False	1	100;0;0	0.11	False		ENSG00000169057	ENSG00000169057	HGNC:6990													
MED12	gene	MED12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; Ohdo syndrome, X-linked, 300895;  						False	1	100;0;0	0.11	False		ENSG00000184634	ENSG00000184634	HGNC:11957													
MED17	gene	MED17	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly, postnatal progressive, with seizures and brain; atrophy, 613668;  						False	1	100;0;0	0.11	False		ENSG00000042429	ENSG00000042429	HGNC:2375													
MEF2C	gene	MEF2C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, stereotypic movements, epilepsy, and/or; cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443;  						False	1	100;0;0	0.11	False		ENSG00000081189	ENSG00000081189	HGNC:6996													
MEGF10	gene	MEGF10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399;  						False	1	100;0;0	0.11	False		ENSG00000145794	ENSG00000145794	HGNC:29634													
MEGF8	gene	MEGF8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Carpenter syndrome 2, 614976						False	1	100;0;0	0.11	False		ENSG00000105429	ENSG00000105429	HGNC:3233													
MFSD8	gene	MFSD8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy; with central cone involvement, 616170;  						False	1	100;0;0	0.11	False		ENSG00000164073	ENSG00000164073	HGNC:28486													
MGAT2	gene	MGAT2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIa, 212066						False	1	100;0;0	0.11	False		ENSG00000168282	ENSG00000168282	HGNC:7045													
MGP	gene	MGP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Keutel syndrome, 245150						False	1	100;0;0	0.11	False		ENSG00000111341	ENSG00000111341	HGNC:7060													
MICU1	gene	MICU1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myopathy with extrapyramidal signs, 615673						False	1	100;0;0	0.11	False		ENSG00000107745	ENSG00000107745	HGNC:1530													
MID1	gene	MID1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz GBBB syndrome, type I, 300000						False	1	100;0;0	0.11	False		ENSG00000101871	ENSG00000101871	HGNC:7095													
MITF	gene	MITF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome, type 2A, 193510; Waardenburg; syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 						False	1	100;0;0	0.11	False		ENSG00000187098	ENSG00000187098	HGNC:7105													
MKKS	gene	MKKS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231;  						False	1	100;0;0	0.11	False		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 1, 249000; Bardet-Biedl syndrome 13, 615990;  						False	1	100;0;0	0.11	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
MLC1	gene	MLC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts, 604004;  						False	1	100;0;0	0.11	False		ENSG00000100427	ENSG00000100427	HGNC:17082													
MLYCD	gene	MLYCD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Malonyl-CoA decarboxylase deficiency, 248360						False	1	100;0;0	0.11	False		ENSG00000103150	ENSG00000103150	HGNC:7150													
MMAA	gene	MMAA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, vitamin B12-responsive, 251100						False	1	100;0;0	0.11	False		ENSG00000151611	ENSG00000151611	HGNC:18871													
MMAB	gene	MMAB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, vitamin B12-responsive, due to defect in; synthesis of adenosylcobalamin, cblB complementation type, 251110;  						False	1	100;0;0	0.11	False		ENSG00000139428	ENSG00000139428	HGNC:19331													
MMACHC	gene	MMACHC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblC type, 277400						False	1	100;0;0	0.11	False		ENSG00000132763	ENSG00000132763	HGNC:24525													
MMADHC	gene	MMADHC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, cblD type, variant 1, 277410; Methylmalonic; aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410;  						False	1	100;0;0	0.11	False		ENSG00000168288	ENSG00000168288	HGNC:25221													
MNX1	gene	MNX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Currarino syndrome, 176450						False	1	100;0;0	0.11	False		ENSG00000130675	ENSG00000130675	HGNC:4979													
MOCS1	gene	MOCS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency A, 252150						False	1	100;0;0	0.11	False		ENSG00000124615	ENSG00000124615	HGNC:7190													
MOCS2	gene	MOCS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency B, 252160						False	1	100;0;0	0.11	False		ENSG00000164172	ENSG00000164172	HGNC:7193													
MPDU1	gene	MPDU1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type If, 609180						False	1	100;0;0	0.11	False		ENSG00000129255	ENSG00000129255	HGNC:7207													
MPI	gene	MPI	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ib, 602579						False	1	100;0;0	0.11	False		ENSG00000178802	ENSG00000178802	HGNC:7216													
MPLKIP	gene	MPLKIP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy, nonphotosensitive 1, 234050						False	1	100;0;0	0.11	False		ENSG00000168303	ENSG00000168303	HGNC:16002													
MPV17	gene	MPV17	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;  						False	1	100;0;0	0.11	False		ENSG00000115204	ENSG00000115204	HGNC:7224													
MPZ	gene	MPZ	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, type 1B, 118200; Dejerine-Sottas; disease, 145900; Neuropathy, congenital hypomyelinating, 605253; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, dominant intermediate D, 607791						False	1	100;0;0	0.11	False		ENSG00000158887	ENSG00000158887	HGNC:7225													
MRE11	gene	MRE11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia-like disorder, 604391						False	1	100;0;0	0.11	False		ENSG00000020922	ENSG00000020922	HGNC:7230													
MT-ATP6	gene	MT-ATP6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments							False	1	100;0;0	0.11	False		ENSG00000198899	ENSG00000198899	HGNC:7414													
MTHFR	gene	MTHFR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Homocystinuria due to MTHFR deficiency, 236250; {Schizophrenia, susceptibility to}, 181500; {Vascular disease, susceptibility to}; {Neural tube defects, susceptibility to}, 601634; {Thromboembolism, susceptibility to}, 188050 						False	1	100;0;0	0.11	False		ENSG00000177000	ENSG00000177000	HGNC:7436													
MTM1	gene	MTM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myotubular myopathy, X-linked, 310400						False	1	100;0;0	0.11	False		ENSG00000171100	ENSG00000171100	HGNC:7448													
MTMR2	gene	MTMR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4B1, 601382						False	1	100;0;0	0.11	False		ENSG00000087053	ENSG00000087053	HGNC:7450													
MT-ND1	gene	MT-ND1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MITOCHONDRIAL	LEBER OPTIC ATROPHY; ALZHEIMER DISEASE; SIDS; MITOCHONDRIAL COMPLEX I DEFICIENCY; DYSTONIA, ADULT-ONSET; MELAS						False	1	100;0;0	0.11	False		ENSG00000198888	ENSG00000198888	HGNC:7455													
MT-ND4	gene	MT-ND4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MITOCHONDRIAL	LEBER OPTIC ATROPHY; MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; MITOCHONDRIAL COMPLEX I DEFICIENCY						False	1	100;0;0	0.11	False		ENSG00000198886	ENSG00000198886	HGNC:7459													
MTO1	gene	MTO1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 10, 614702						False	1	100;0;0	0.11	False		ENSG00000135297	ENSG00000135297	HGNC:19261													
MTPAP	gene	MTPAP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Ataxia, spastic, 4, 613672						False	1	100;0;0	0.11	False		ENSG00000107951	ENSG00000107951	HGNC:25532													
MTR	gene	MTR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634;  						False	1	100;0;0	0.11	False		ENSG00000116984	ENSG00000116984	HGNC:7468													
MTRR	gene	MTRR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cbl E type, 236270; {Neural tube defects, folate-sensitive, susceptibility to}, 601634;  						False	1	100;0;0	0.11	False		ENSG00000124275	ENSG00000124275	HGNC:7473													
MT-TK	gene	MT-TK	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown							False	1	100;0;0	0.11	False		ENSG00000210156	ENSG00000210156	HGNC:7489													
MTTP	gene	MTTP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Abetalipoproteinemia, 200100; {Metabolic syndrome, protection; against}, 605552;  						False	1	100;0;0	0.11	False		ENSG00000138823	ENSG00000138823	HGNC:7467													
MUT	gene	MUT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, mut(0) type, 251000						False	1	100;0;0	0.11	False		ENSG00000146085	ENSG00000146085	HGNC:7526													
MYBPC1	gene	MYBPC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Arthrogryposis, distal, type 1B, 614335; Lethal congenital; contracture syndrome 4, 614915;  						False	1	100;0;0	0.11	False		ENSG00000196091	ENSG00000196091	HGNC:7549													
MYCN	gene	MYCN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Feingold syndrome, 164280						False	1	100;0;0	0.11	False		ENSG00000134323	ENSG00000134323	HGNC:7559													
MYH3	gene	MYH3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arthrogryposis, distal, type 2A, 193700; Arthrogryposis, distal, type 2B, 601680;  						False	1	100;0;0	0.11	False		ENSG00000109063	ENSG00000109063	HGNC:7573													
MYO5A	gene	MYO5A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome, type 1, 214450						False	1	100;0;0	0.11	False		ENSG00000197535	ENSG00000197535	HGNC:7602													
MYO7A	gene	MYO7A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1B, 276900; Deafness, autosomal recessive 2, 600060; Deafness, autosomal dominant 11, 601317;  						False	1	100;0;0	0.11	False		ENSG00000137474	ENSG00000137474	HGNC:7606													
NAA10	gene	NAA10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N-terminal acetyltransferase deficiency, 300855; ?Microphthalmia, syndromic 1, 309800;  						False	1	100;0;0	0.11	False		ENSG00000102030	ENSG00000102030	HGNC:18704													
NAGA	gene	NAGA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Schindler disease, type I, 609241; Kanzaki disease, 609242; Schindler disease, type III, 609241;  						False	1	100;0;0	0.11	False		ENSG00000198951	ENSG00000198951	HGNC:7631													
NAGLU	gene	NAGLU	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920						False	1	100;0;0	0.11	False		ENSG00000108784	ENSG00000108784	HGNC:7632													
NAGS	gene	NAGS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	N-acetylglutamate synthase deficiency, 237310						False	1	100;0;0	0.11	False		ENSG00000161653	ENSG00000161653	HGNC:17996													
NALCN	gene	NALCN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419;  						False	1	100;0;0	0.11	False		ENSG00000102452	ENSG00000102452	HGNC:19082													
NBN	gene	NBN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome, 251260; Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065;  						False	1	100;0;0	0.11	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
NDE1	gene	NDE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013;  						False	1	100;0;0	0.11	False		ENSG00000072864	ENSG00000072864	HGNC:17619													
NDP	gene	NDP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390;  						False	1	100;0;0	0.11	False		ENSG00000124479	ENSG00000124479	HGNC:7678													
NDRG1	gene	NDRG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4D, 601455						False	1	100;0;0	0.11	False		ENSG00000104419	ENSG00000104419	HGNC:7679													
NDUFA1	gene	NDUFA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mitochondrial complex I deficiency, 252010						False	1	100;0;0	0.11	False		ENSG00000125356	ENSG00000125356	HGNC:7683													
NDUFS1	gene	NDUFS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010						False	1	100;0;0	0.11	False		ENSG00000023228	ENSG00000023228	HGNC:7707													
NDUFS4	gene	NDUFS4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010;  						False	1	100;0;0	0.11	False		ENSG00000164258	ENSG00000164258	HGNC:7711													
NDUFS7	gene	NDUFS7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000						False	1	100;0;0	0.11	False		ENSG00000115286	ENSG00000115286	HGNC:7714													
NDUFS8	gene	NDUFS8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome due to mitochondrial complex I deficiency, 256000						False	1	100;0;0	0.11	False		ENSG00000110717	ENSG00000110717	HGNC:7715													
NDUFV1	gene	NDUFV1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010						False	1	100;0;0	0.11	False		ENSG00000167792	ENSG00000167792	HGNC:7716													
NEFL	gene	NEFL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000104725	ENSG00000277586	HGNC:7739													
NEU1	gene	NEU1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Sialidosis, type I, 256550; Sialidosis, type II, 256550						False	1	100;0;0	0.11	False		ENSG00000204386	ENSG00000204386	HGNC:7758													
NEXMIF	gene	NEXMIF	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 98, 300912						False	1	100;0;0	0.11	False		ENSG00000050030	ENSG00000050030	HGNC:29433													
NF1	gene	NF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurofibromatosis, type 1, 162200; Leukemia, juvenile; myelomonocytic, 607785; Neurofibromatosis, familial spinal, 162210; Neurofibromatosis-Noonan; syndrome, 601321; Watson syndrome, 193520 						False	1	100;0;0	0.11	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
NFIX	gene	NFIX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535						False	1	100;0;0	0.11	False		ENSG00000008441	ENSG00000008441	HGNC:7788													
NFU1	gene	NFU1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 1, 605711						False	1	100;0;0	0.11	False		ENSG00000169599	ENSG00000169599	HGNC:16287													
NGLY1	gene	NGLY1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iv, 615273						False	1	100;0;0	0.11	False		ENSG00000151092	ENSG00000151092	HGNC:17646													
NHEJ1	gene	NHEJ1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency with microcephaly, growth; retardation, and sensitivity to ionizing radiation, 611291;  						False	1	100;0;0	0.11	False		ENSG00000187736	ENSG00000187736	HGNC:25737													
NHLRC1	gene	NHLRC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 2B (Lafora), 254780						False	1	100;0;0	0.11	False		ENSG00000187566	ENSG00000187566	HGNC:21576													
NHS	gene	NHS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200						False	1	100;0;0	0.11	False		ENSG00000188158	ENSG00000188158	HGNC:7820													
NIPA1	gene	NIPA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 6, autosomal dominant, 600363						False	1	100;0;0	0.11	False		ENSG00000170113	ENSG00000170113	HGNC:17043													
NIPBL	gene	NIPBL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cornelia de Lange syndrome 1, 122470						False	1	100;0;0	0.11	False		ENSG00000164190	ENSG00000164190	HGNC:28862													
NKX2-1	gene	NKX2-1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Goiter, familial, due to TTF-1 defect; Chorea, hereditary; benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978;  						False	1	100;0;0	0.11	False		ENSG00000136352	ENSG00000136352	HGNC:11825													
NKX2-5	gene	NKX2-5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrial septal defect 7, with or without AV conduction defects, 108900; Tetrology of Fallot, 187500; Hypothyroidism, congenital nongoitrous, 5, 225250; Ventricular septal defect 3, 614432; Hypoplastic left heart syndrome 2, 614435; Conotruncal heart malformations, variable, 217095						False	1	100;0;0	0.11	False		ENSG00000183072	ENSG00000183072	HGNC:2488													
NOP56	gene	NOP56	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 36, 614153						False	1	100;0;0	0.11	False		ENSG00000101361	ENSG00000101361	HGNC:15911													
NPC1	gene	NPC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220;  						False	1	100;0;0	0.11	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
NPC2	gene	NPC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Niemann-pick disease, type C2, 607625						False	1	100;0;0	0.11	False		ENSG00000119655	ENSG00000119655	HGNC:14537													
NPHP1	gene	NPHP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583;  						False	1	100;0;0	0.11	False		ENSG00000144061	ENSG00000144061	HGNC:7905													
NR2F1	gene	NR2F1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722						False	1	100;0;0	0.11	False		ENSG00000175745	ENSG00000175745	HGNC:7975													
NRAS	gene	NRAS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autoimmune lymphoproliferative syndrome type IV, 614470; Noonan syndrome 6, 613224; Epidermal nevus, somatic, 162900; Thyroid carcinoma, follicular, somatic, 188470; Colorectal cancer, somatic, 114500; Melanocytic nevus syndrome, congenital, somatic, 137550; Neurocutaneous melanosis, somatic, 249400; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200						False	1	100;0;0	0.11	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
NSD1	gene	NSD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sotos syndrome 1, 117550; Leukemia, acute myeloid, 601626; Beckwith-Wiedemann syndrome, 130650;  						False	1	100;0;0	0.11	False		ENSG00000165671	ENSG00000165671	HGNC:14234													
NSDHL	gene	NSDHL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	CHILD syndrome, 308050; CK syndrome, 300831						False	1	100;0;0	0.11	False		ENSG00000147383	ENSG00000147383	HGNC:13398													
NT5C2	gene	NT5C2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 45, 613162						False	1	100;0;0	0.11	False		ENSG00000076685	ENSG00000076685	HGNC:8022													
NTRK1	gene	NTRK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240;  						False	1	100;0;0	0.11	False		ENSG00000198400	ENSG00000198400	HGNC:8031													
NUBPL	gene	NUBPL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010						False	1	100;0;0	0.11	False		ENSG00000151413	ENSG00000151413	HGNC:20278													
OBSL1	gene	OBSL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 2, 612921						False	1	100;0;0	0.11	False		ENSG00000124006	ENSG00000124006	HGNC:29092													
OCRL	gene	OCRL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, 309000; Dent disease 2, 300555						False	1	100;0;0	0.11	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
OFD1	gene	OFD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Orofaciodigital syndrome I, 311200; Simpson-Golabi-Behmel; syndrome, type 2, 300209; Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424;  						False	1	100;0;0	0.11	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
OPA3	gene	OPA3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type III, 258501; Optic atrophy; 3 with cataract, 165300;  						False	1	100;0;0	0.11	False		ENSG00000125741	ENSG00000125741	HGNC:8142													
OPHN1	gene	OPHN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with cerebellar hypoplasia and; distinctive facial appearance, 300486;  						False	1	100;0;0	0.11	False		ENSG00000079482	ENSG00000079482	HGNC:8148													
ORC1	gene	ORC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 1, 224690						False	1	100;0;0	0.11	False		ENSG00000085840	ENSG00000085840	HGNC:8487													
ORC4	gene	ORC4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 2, 613800						False	1	100;0;0	0.11	False		ENSG00000115947	ENSG00000115947	HGNC:8490													
ORC6	gene	ORC6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 3, 613803						False	1	100;0;0	0.11	False		ENSG00000091651	ENSG00000091651	HGNC:17151													
OTC	gene	OTC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ornithine transcarbamylase deficiency, 311250						False	1	100;0;0	0.11	False		ENSG00000036473	ENSG00000036473	HGNC:8512													
OTX2	gene	OTX2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 5, 610125; Pituitary hormone; deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, and pituitary dysfunction, 610125;  						False	1	100;0;0	0.11	False		ENSG00000165588	ENSG00000165588	HGNC:8522													
OXCT1	gene	OXCT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050						False	1	100;0;0	0.11	False		ENSG00000083720	ENSG00000083720	HGNC:8527													
P3H1	gene	P3H1	Other	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VIII, 610915						False	1	100;0;0	0.11	False		ENSG00000117385	ENSG00000117385	HGNC:19316													
PACS1	gene	PACS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 17, 615009						False	1	100;0;0	0.11	False		ENSG00000175115	ENSG00000175115	HGNC:30032													
PAFAH1B1	gene	PAFAH1B1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432;  						False	1	100;0;0	0.11	False		ENSG00000007168	ENSG00000007168	HGNC:8574													
PAH	gene	PAH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Phenylketonuria, 261600; [Hyperphenylalaninemia, non-PKU mild], 261600;  						False	1	100;0;0	0.11	False		ENSG00000171759	ENSG00000171759	HGNC:8582													
PAK3	gene	PAK3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 30/47, 300558						False	1	100;0;0	0.11	False		ENSG00000077264	ENSG00000077264	HGNC:8592													
PALB2	gene	PALB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group N, 610832; {Breast cancer, susceptibility to}, 114480; {Pancreatic cancer, susceptibility to, 3}, 613348;  						False	1	100;0;0	0.11	False		ENSG00000083093	ENSG00000083093	HGNC:26144													
PANK2	gene	PANK2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236;  						False	1	100;0;0	0.11	False		ENSG00000125779	ENSG00000125779	HGNC:15894													
PAPSS2	gene	PAPSS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847;  						False	1	100;0;0	0.11	False		ENSG00000198682	ENSG00000198682	HGNC:8604													
PARK7	gene	PARK7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Parkinson disease 7, autosomal recessive early-onset, 606324						False	1	100;0;0	0.11	False		ENSG00000116288	ENSG00000116288	HGNC:16369													
PAX2	gene	PAX2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Papillorenal syndrome, 120330; Renal hypoplasia, isolated, 191830; Glomerulosclerosis, focal segmental, 7, 616002;  						False	1	100;0;0	0.11	False		ENSG00000075891	ENSG00000075891	HGNC:8616													
PAX6	gene	PAX6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aniridia, 106210; Peters anomaly, 604229; Cataract with; late-onset corneal dystrophy, 106210; Keratitis, 148190; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Optic nerve; hypoplasia, 165550; Coloboma, ocular, 120200; Coloboma of optic nerve, 120430; Gillespie syndrome, 206700						False	1	100;0;0	0.11	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
PAX8	gene	PAX8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypothyroidism, congenital, due to thyroid dysgenesis or; hypoplasia, 218700;  						False	1	100;0;0	0.11	False		ENSG00000125618	ENSG00000125618	HGNC:8622													
PC	gene	PC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pyruvate carboxylase deficiency, 266150						False	1	100;0;0	0.11	False		ENSG00000173599	ENSG00000173599	HGNC:8636													
PCBD1	gene	PCBD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, D, 264070						False	1	100;0;0	0.11	False		ENSG00000166228	ENSG00000166228	HGNC:8646													
PCCA	gene	PCCA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Propionicacidemia, 606054						False	1	100;0;0	0.11	False		ENSG00000175198	ENSG00000175198	HGNC:8653													
PCCB	gene	PCCB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Propionicacidemia, 606054						False	1	100;0;0	0.11	False		ENSG00000114054	ENSG00000114054	HGNC:8654													
PCDH19	gene	PCDH19	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Epileptic encephalopathy, early infantile, 9, 300088						False	1	100;0;0	0.11	False		ENSG00000165194	ENSG00000165194	HGNC:14270													
PCNT	gene	PCNT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, 210720;  						False	1	100;0;0	0.11	False		ENSG00000160299	ENSG00000160299	HGNC:16068													
PDCD10	gene	PDCD10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations 3, 603285						False	1	100;0;0	0.11	False		ENSG00000114209	ENSG00000114209	HGNC:8761													
PDE4D	gene	PDE4D	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Stroke, susceptibility to, 1}, 606799; Acrodysostosis 2, with or without hormone resistance, 614613;  						False	1	100;0;0	0.11	False		ENSG00000113448	ENSG00000113448	HGNC:8783													
PDGFB	gene	PDGFB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483;  						False	1	100;0;0	0.11	False		ENSG00000100311	ENSG00000100311	HGNC:8800													
PDGFRB	gene	PDGFRB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myeloproliferative disorder with eosinophilia, 131440; Basal ganglia calcification, idiopathic, 4, 615007; Myofibromatosis, infantile, 1, 228550;  						False	1	100;0;0	0.11	False		ENSG00000113721	ENSG00000113721	HGNC:8804													
PDHA1	gene	PDHA1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Pyruvate dehydrogenase E1-alpha deficiency, 312170						False	1	100;0;0	0.11	False		ENSG00000131828	ENSG00000131828	HGNC:8806													
PDHX	gene	PDHX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Lacticacidemia due to PDX1 deficiency, 245349						False	1	100;0;0	0.11	False		ENSG00000110435	ENSG00000110435	HGNC:21350													
PDSS2	gene	PDSS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 3, 614652						False	1	100;0;0	0.11	False		ENSG00000164494	ENSG00000164494	HGNC:23041													
PDYN	gene	PDYN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 23, 610245						False	1	100;0;0	0.11	False		ENSG00000101327	ENSG00000101327	HGNC:8820													
PEPD	gene	PEPD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Prolidase deficiency, 170100						False	1	100;0;0	0.11	False		ENSG00000124299	ENSG00000124299	HGNC:8840													
PEX1	gene	PEX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 1A (Zellweger), 214100; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539;  						False	1	100;0;0	0.11	False		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX10	gene	PEX10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871;  						False	1	100;0;0	0.11	False		ENSG00000157911	ENSG00000157911	HGNC:8851													
PEX12	gene	PEX12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B, 266510;  						False	1	100;0;0	0.11	False		ENSG00000108733	ENSG00000108733	HGNC:8854													
PEX13	gene	PEX13	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 11A (Zellweger), 614883; Peroxisome biogenesis disorder 11B, 614885;  						False	1	100;0;0	0.11	False		ENSG00000162928	ENSG00000162928	HGNC:8855													
PEX14	gene	PEX14	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 13A (Zellweger), 614887						False	1	100;0;0	0.11	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX16	gene	PEX16	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877;  						False	1	100;0;0	0.11	False		ENSG00000121680	ENSG00000121680	HGNC:8857													
PEX19	gene	PEX19	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 12A (Zellweger), 614886						False	1	100;0;0	0.11	False		ENSG00000162735	ENSG00000162735	HGNC:9713													
PEX2	gene	PEX2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867;  						False	1	100;0;0	0.11	False		ENSG00000164751	ENSG00000164751	HGNC:9717													
PEX26	gene	PEX26	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873;  						False	1	100;0;0	0.11	False		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX3	gene	PEX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 10A (Zellweger), 614882						False	1	100;0;0	0.11	False		ENSG00000034693	ENSG00000034693	HGNC:8858													
PEX5	gene	PEX5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370;  						False	1	100;0;0	0.11	False		ENSG00000139197	ENSG00000139197	HGNC:9719													
PEX6	gene	PEX6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863;  						False	1	100;0;0	0.11	False		ENSG00000124587	ENSG00000124587	HGNC:8859													
PEX7	gene	PEX7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879;  						False	1	100;0;0	0.11	False		ENSG00000112357	ENSG00000112357	HGNC:8860													
PGAP1	gene	PGAP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Mental retardation, autosomal recessive 42, 615802						False	1	100;0;0	0.11	False		ENSG00000197121	ENSG00000197121	HGNC:25712													
PGAP2	gene	PGAP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 3, 614207						False	1	100;0;0	0.11	False		ENSG00000148985	ENSG00000148985	HGNC:17893													
PGAP3	gene	PGAP3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 4, 615716						False	1	100;0;0	0.11	False		ENSG00000161395	ENSG00000161395	HGNC:23719													
PGK1	gene	PGK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phosphoglycerate kinase 1 deficiency, 300653						False	1	100;0;0	0.11	False		ENSG00000102144	ENSG00000102144	HGNC:8896													
PGM1	gene	PGM1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type It, 614921						False	1	100;0;0	0.11	False		ENSG00000079739	ENSG00000079739	HGNC:8905													
PHF6	gene	PHF6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Borjeson-Forssman-Lehmann syndrome, 301900						False	1	100;0;0	0.11	False		ENSG00000156531	ENSG00000156531	HGNC:18145													
PHF8	gene	PHF8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation syndrome, X-linked, Siderius type, 300263						False	1	100;0;0	0.11	False		ENSG00000172943	ENSG00000172943	HGNC:20672													
PHGDH	gene	PHGDH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Phosphoglycerate dehydrogenase deficiency, 601815; Neu-Laxova syndrome1, 256520;  						False	1	100;0;0	0.11	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
PHOX2B	gene	PHOX2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Central hypoventilation syndrome, congenital, with or without; Hirschsprung disease, 209880; {Neuroblastoma, susceptibility to, 2}, 613013; Neuroblastoma with Hirschsprung disease, 613013;  						False	1	100;0;0	0.11	False		ENSG00000109132	ENSG00000109132	HGNC:9143													
PIEZO2	gene	PIEZO2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, type 3, 114300; ?Marden-Walker syndrome, 248700;  						False	1	100;0;0	0.11	False		ENSG00000154864	ENSG00000154864	HGNC:26270													
PIGA	gene	PIGA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Paroxysmal nocturnal hemoglobinuria, somatic, 300818; Multiple; congenital anomalies-hypotonia-seizures syndrome 2, 300868;  						False	1	100;0;0	0.11	False		ENSG00000165195	ENSG00000165195	HGNC:8957													
PIGL	gene	PIGL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	CHIME syndrome, 280000						False	1	100;0;0	0.11	False		ENSG00000108474	ENSG00000108474	HGNC:8966													
PIGN	gene	PIGN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080;  						False	1	100;0;0	0.11	False		ENSG00000197563	ENSG00000197563	HGNC:8967													
PIGO	gene	PIGO	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 2, 614749						False	1	100;0;0	0.11	False		ENSG00000165282	ENSG00000165282	HGNC:23215													
PIGV	gene	PIGV	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 1, 239300						False	1	100;0;0	0.11	False		ENSG00000060642	ENSG00000060642	HGNC:26031													
PIK3CA	gene	PIK3CA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Ovarian cancer, somatic, 167000; Breast cancer, somatic, 114480; Colorectal cancer, somatic, 114500; Gastric cancer, somatic, 613659; Hepatocellular carcinoma, somatic, 114550; Nonsmall cell lung cancer, somatic, 211980; Keratosis, seborrheic, somatic, 182000; Nevus, epidermal, somatic, 162900; CLOVE syndrome, somatic, 612918; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Cowden syndrome 5, 615108						False	1	100;0;0	0.11	False		ENSG00000121879	ENSG00000121879	HGNC:8975													
PIK3R1	gene	PIK3R1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Agammaglobulinemia 7, autosomal recessive, 615214; SHORT; syndrome, 269880; Immunodeficiency 36, 616005;  						False	1	100;0;0	0.11	False		ENSG00000145675	ENSG00000145675	HGNC:8979													
PIK3R2	gene	PIK3R2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387;  						False	1	100;0;0	0.11	False		ENSG00000105647	ENSG00000105647	HGNC:8980													
PINK1	gene	PINK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Parkinson disease 6, early onset, 605909						False	1	100;0;0	0.11	False		ENSG00000158828	ENSG00000158828	HGNC:14581													
PITX3	gene	PITX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623; Cataract 11, syndromic, 610623;  						False	1	100;0;0	0.11	False		ENSG00000107859	ENSG00000107859	HGNC:9006													
PLA2G6	gene	PLA2G6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration; with brain iron accumulation 2B, 610217; Parkinson disease 14, 612953;  						False	1	100;0;0	0.11	False		ENSG00000184381	ENSG00000184381	HGNC:9039													
PLCB1	gene	PLCB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 12, 613722						False	1	100;0;0	0.11	False		ENSG00000182621	ENSG00000182621	HGNC:15917													
PLEC	gene	PLEC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy with epidermolysis bullosa simplex, 226670; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138; Muscular dystrophy, limb-girdle, type 2Q, 613723 						False	1	100;0;0	0.11	False		ENSG00000178209	ENSG00000178209	HGNC:9069													
PLK4	gene	PLK4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171;  						False	1	100;0;0	0.11	False		ENSG00000142731	ENSG00000142731	HGNC:11397													
PLOD1	gene	PLOD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, type VI, 225400						False	1	100;0;0	0.11	False		ENSG00000083444	ENSG00000083444	HGNC:9081													
PLP1	gene	PLP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920;  						False	1	100;0;0	0.11	False		ENSG00000123560	ENSG00000123560	HGNC:9086													
PMM2	gene	PMM2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia, 212065						False	1	100;0;0	0.11	False		ENSG00000140650	ENSG00000140650	HGNC:9115													
PMP22	gene	PMP22	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, type 1A, 118220; Dejerine-Sottas; disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1E, 118300; Roussy-Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393						False	1	100;0;0	0.11	False		ENSG00000109099	ENSG00000109099	HGNC:9118													
PNKD	gene	PNKD	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Paroxysmal nonkinesigenic dyskinesia, 118800						False	1	100;0;0	0.11	False		ENSG00000127838	ENSG00000127838	HGNC:9153													
PNKP	gene	PNKP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly, seizures, and developmental delay, 613402						False	1	100;0;0	0.11	False		ENSG00000039650	ENSG00000039650	HGNC:9154													
PNPLA6	gene	PNPLA6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470;  						False	1	100;0;0	0.11	False		ENSG00000032444	ENSG00000032444	HGNC:16268													
PNPO	gene	PNPO	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Pyridoxamine 5'-phosphate oxidase deficiency, 610090						False	1	100;0;0	0.11	False		ENSG00000108439	ENSG00000108439	HGNC:30260													
PNPT1	gene	PNPT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934;  						False	1	100;0;0	0.11	False		ENSG00000138035	ENSG00000138035	HGNC:23166													
POC1A	gene	POC1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Short stature, onychodysplasia, facial dysmorphism, and; hypotrichosis, 614813;  						False	1	100;0;0	0.11	False		ENSG00000164087	ENSG00000164087	HGNC:24488													
POGZ	gene	POGZ	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual Disability						False	1	100;0;0	0.11	False		ENSG00000143442	ENSG00000143442	HGNC:18801													
POLG	gene	POLG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Progressive external ophthalmoplegia, autosomal recessive, 258450; Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial; DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459						False	1	100;0;0	0.11	False		ENSG00000140521	ENSG00000140521	HGNC:9179													
POLR3A	gene	POLR3A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 7, with or without oligodontia; and/or hypogonadotropic hypogonadism, 607694;  						False	1	100;0;0	0.11	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
POLR3B	gene	POLR3B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 8, with or without oligodontia; and/or hypogonadotropic hypogonadism, 614381;  						False	1	100;0;0	0.11	False		ENSG00000013503	ENSG00000013503	HGNC:30348													
POMGNT1	gene	POMGNT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular; dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 						False	1	100;0;0	0.11	False		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMGNT2	gene	POMGNT2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and; eye anomalies, type A, 8, 614830;  						False	1	100;0;0	0.11	False		ENSG00000144647	ENSG00000144647	HGNC:25902													
POMT1	gene	POMT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155; Muscular; dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 						False	1	100;0;0	0.11	False		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye; anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156; Muscular; dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 						False	1	100;0;0	0.11	False		ENSG00000009830	ENSG00000009830	HGNC:19743													
PORCN	gene	PORCN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Focal dermal hypoplasia, 305600						False	1	100;0;0	0.11	False		ENSG00000102312	ENSG00000102312	HGNC:17652													
POU1F1	gene	POU1F1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 1, 613038						False	1	100;0;0	0.11	False		ENSG00000064835	ENSG00000064835	HGNC:9210													
PPP2R1A	gene	PPP2R1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual Disability						False	1	100;0;0	0.11	False		ENSG00000105568	ENSG00000105568	HGNC:9302													
PPP2R2B	gene	PPP2R2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Spinocerebellar ataxia 12, 604326						False	1	100;0;0	0.11	False		ENSG00000156475	ENSG00000156475	HGNC:9305													
PPP2R5D	gene	PPP2R5D	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Intellectual disability						False	1	100;0;0	0.11	False		ENSG00000112640	ENSG00000112640	HGNC:9312													
PPT1	gene	PPT1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1, 256730						False	1	100;0;0	0.11	False		ENSG00000131238	ENSG00000131238	HGNC:9325													
PQBP1	gene	PQBP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Renpenning syndrome, 309500						False	1	100;0;0	0.11	False		ENSG00000102103	ENSG00000102103	HGNC:9330													
PRICKLE1	gene	PRICKLE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1B, 612437						False	1	100;0;0	0.11	False		ENSG00000139174	ENSG00000139174	HGNC:17019													
PRICKLE2	gene	PRICKLE2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, progressive myoclonic 5, 613832						False	1	100;0;0	0.11	False		ENSG00000163637	ENSG00000163637	HGNC:20340													
PRKAR1A	gene	PRKAR1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Carney complex, type 1, 160980; Myxoma, intracardiac, 255960; Thyroid carcinoma, papillary, somatic, 188550; Pigmented nodular adrenocortical disease, primary, 1, 610489; Adrenocortical tumor, somatic, Acrodysostosis 1, with or without hormone resistance, 101800 						False	1	100;0;0	0.11	False		ENSG00000108946	ENSG00000108946	HGNC:9388													
PRKCG	gene	PRKCG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 14, 605361						False	1	100;0;0	0.11	False		ENSG00000126583	ENSG00000126583	HGNC:9402													
PRKN	gene	PRKN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Parkinson disease, juvenile, type 2, 600116; Adenocarcinoma of; lung, somatic, 211980; Adenocarcinoma, ovarian, somatic, 167000; {Leprosy, susceptibility to}, 607572;  						False	1	100;0;0	0.11	False		ENSG00000185345	ENSG00000185345	HGNC:8607													
PRKRA	gene	PRKRA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dystonia 16, 612067						False	1	100;0;0	0.11	False		ENSG00000180228	ENSG00000180228	HGNC:9438													
PROP1	gene	PROP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 2, 262600						False	1	100;0;0	0.11	False		ENSG00000175325	ENSG00000175325	HGNC:9455													
PRPS1	gene	PRPS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Gout, PRPS-related, 300661; Phosphoribosylpyrophosphate; synthetase superactivity, 300661; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Arts syndrome, 301835; Deafness, X-linked 1, 304500 						False	1	100;0;0	0.11	False		ENSG00000147224	ENSG00000147224	HGNC:9462													
PRRT2	gene	PRRT2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign; familial infantile, 2, 605751; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066;  						False	1	100;0;0	0.11	False		ENSG00000167371	ENSG00000167371	HGNC:30500													
PRSS12	gene	PRSS12	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 1, 249500						False	1	100;0;0	0.11	False		ENSG00000164099	ENSG00000164099	HGNC:9477													
PRX	gene	PRX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 4F, 614895;  						False	1	100;0;0	0.11	False		ENSG00000105227	ENSG00000105227	HGNC:13797													
PSAP	gene	PSAP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Combined SAP deficiency, 611721; Krabbe disease, atypical, 611722;  						False	1	100;0;0	0.11	False		ENSG00000197746	ENSG00000197746	HGNC:9498													
PSEN1	gene	PSEN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Alzheimer disease, type 3, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Dementia, frontotemporal, 600274; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Acne inversa, familial, 3, 613737						False	1	100;0;0	0.11	False		ENSG00000080815	ENSG00000080815	HGNC:9508													
PSMB8	gene	PSMB8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040;  						False	1	100;0;0	0.11	False		ENSG00000204264	ENSG00000204264	HGNC:9545													
PSPH	gene	PSPH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Phosphoserine phosphatase deficiency, 614023						False	1	100;0;0	0.11	False		ENSG00000146733	ENSG00000146733	HGNC:9577													
PTCH1	gene	PTCH1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Basal cell nevus syndrome, 109400; Basal cell carcinoma, somatic, 605462; Holoprosencephaly-7, 610828;  						False	1	100;0;0	0.11	False		ENSG00000185920	ENSG00000185920	HGNC:9585													
PTCHD1	gene	PTCHD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Autism/ID						False	1	100;0;0	0.11	False		ENSG00000165186	ENSG00000165186	HGNC:26392													
PTDSS1	gene	PTDSS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lenz-Majewski hyperostotic dwarfism, 151050						False	1	100;0;0	0.11	False		ENSG00000156471	ENSG00000156471	HGNC:9587													
PTEN	gene	PTEN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Bannayan-Riley-Ruvalcaba syndrome, 153480; {Meningioma}, 607174; {Glioma susceptibility 2}, 613028; Macrocephaly/autism syndrome, 605309; PTEN hamartoma tumor syndrome; VATER association with macrocephaly and ventriculomegaly, 276950; {Prostate cancer, somatic}, 176807; Thyroid carcinoma, follicular, somatic, 188470; Malignant melanoma, somatic, 155600; Endometrial carcinoma, somatic, 608089; Squamous cell carcinoma, head and neck, somatic, 275355						False	1	100;0;0	0.11	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
PTF1A	gene	PTF1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pancreatic and cerebellar agenesis, 609069; Pancreatic agenesis 2, 615935;  						False	1	100;0;0	0.11	False		ENSG00000168267	ENSG00000168267	HGNC:23734													
PTH1R	gene	PTH1R	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045; Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350;  						False	1	100;0;0	0.11	False		ENSG00000160801	ENSG00000160801	HGNC:9608													
PTPN11	gene	PTPN11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100; Leukemia, juvenile myelomonocytic, 607785; Metachondromatosis, 156250;  						False	1	100;0;0	0.11	False		ENSG00000179295	ENSG00000179295	HGNC:9644													
PTS	gene	PTS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, A, 261640						False	1	100;0;0	0.11	False		ENSG00000150787	ENSG00000150787	HGNC:9689													
PURA	gene	PURA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 31, 616158						False	1	100;0;0	0.11	False		ENSG00000185129	ENSG00000185129	HGNC:9701													
PYCR1	gene	PYCR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIB, 612940; Cutis; laxa, autosomal recessive, type IIIB, 614438;  						False	1	100;0;0	0.11	False		ENSG00000183010	ENSG00000183010	HGNC:9721													
QARS	gene	QARS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly, progressive, seizures, and cerebral and cerebellar; atrophy, 615760;  						False	1	100;0;0	0.11	False		ENSG00000172053	ENSG00000172053	HGNC:9751													
QDPR	gene	QDPR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, C, 261630						False	1	100;0;0	0.11	False		ENSG00000151552	ENSG00000151552	HGNC:9752													
RAB18	gene	RAB18	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 3, 614222						False	1	100;0;0	0.11	False		ENSG00000099246	ENSG00000099246	HGNC:14244													
RAB23	gene	RAB23	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Carpenter syndrome, 201000						False	1	100;0;0	0.11	False		ENSG00000112210	ENSG00000112210	HGNC:14263													
RAB39B	gene	RAB39B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 72, 300271; ?Waisman syndrome, 311510;  						False	1	100;0;0	0.11	False		ENSG00000155961	ENSG00000155961	HGNC:16499													
RAB3GAP1	gene	RAB3GAP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 1, 600118						False	1	100;0;0	0.11	False		ENSG00000115839	ENSG00000115839	HGNC:17063													
RAB3GAP2	gene	RAB3GAP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225						False	1	100;0;0	0.11	False		ENSG00000118873	ENSG00000118873	HGNC:17168													
RAD21	gene	RAD21	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cornelia de Lange syndrome 4, 614701						False	1	100;0;0	0.11	False		ENSG00000164754	ENSG00000164754	HGNC:9811													
RAF1	gene	RAF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 5, 611553; LEOPARD syndrome 2, 611554; Cardiomyopathy, dilated, 1NN, 615916;  						False	1	100;0;0	0.11	False		ENSG00000132155	ENSG00000132155	HGNC:9829													
RAI1	gene	RAI1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Smith-Magenis syndrome, 182290						False	1	100;0;0	0.11	False		ENSG00000108557	ENSG00000108557	HGNC:9834													
RAPSN	gene	RAPSN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, associated with acetylcholine; receptor deficiency, 608931; Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931; Fetal akinesia deformation sequence, 208150 						False	1	100;0;0	0.11	False		ENSG00000165917	ENSG00000165917	HGNC:9863													
RARB	gene	RARB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Microphthalmia, syndromic 12, 615524						False	1	100;0;0	0.11	False		ENSG00000077092	ENSG00000077092	HGNC:9865													
RARS2	gene	RARS2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 6, 611523						False	1	100;0;0	0.11	False		ENSG00000146282	ENSG00000146282	HGNC:21406													
RAX	gene	RAX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated 3, 611038						False	1	100;0;0	0.11	False		ENSG00000134438	ENSG00000134438	HGNC:18662													
RBM8A	gene	RBM8A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia-absent radius syndrome, 274000						False	1	100;0;0	0.11	False		ENSG00000131795	ENSG00000265241	HGNC:9905													
RECQL4	gene	RECQL4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600;  						False	1	100;0;0	0.11	False		ENSG00000160957	ENSG00000160957	HGNC:9949													
REEP1	gene	REEP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 31, autosomal dominant, 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751;  						False	1	100;0;0	0.11	False		ENSG00000068615	ENSG00000068615	HGNC:25786													
REEP2	gene	REEP2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625;  						False	1	100;0;0	0.11	False		ENSG00000132563	ENSG00000132563	HGNC:17975													
RELN	gene	RELN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 2 (Norman-Roberts type), 257320						False	1	100;0;0	0.11	False		ENSG00000189056	ENSG00000189056	HGNC:9957													
RET	gene	RET	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Multiple endocrine neoplasia IIA, 171400; Medullary thyroid; carcinoma, 155240; Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623						False	1	100;0;0	0.11	False		ENSG00000165731	ENSG00000165731	HGNC:9967													
RETREG1	gene	RETREG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type IIB, 613115						False	1	100;0;0	0.11	False		ENSG00000154153	ENSG00000154153	HGNC:25964													
RFX6	gene	RFX6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitchell-Riley syndrome, 615710						False	1	100;0;0	0.11	False		ENSG00000185002	ENSG00000185002	HGNC:21478													
RNASEH2A	gene	RNASEH2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 4, 610333						False	1	100;0;0	0.11	False		ENSG00000104889	ENSG00000104889	HGNC:18518													
RNASEH2B	gene	RNASEH2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 2, 610181						False	1	100;0;0	0.11	False		ENSG00000136104	ENSG00000136104	HGNC:25671													
RNASEH2C	gene	RNASEH2C	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 3, 610329						False	1	100;0;0	0.11	False		ENSG00000172922	ENSG00000172922	HGNC:24116													
RNASET2	gene	RNASET2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, cystic, without megalencephaly, 612951						False	1	100;0;0	0.11	False		ENSG00000026297	ENSG00000026297	HGNC:21686													
RNF216	gene	RNF216	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia and hypogonadotropic hypogonadism, 212840						False	1	100;0;0	0.11	False		ENSG00000011275	ENSG00000011275	HGNC:21698													
RNU4ATAC	gene	RNU4ATAC	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type I, 210710;  						False	1	100;0;0	0.11	False		ENSG00000264229	ENSG00000264229	HGNC:34016													
ROGDI	gene	ROGDI	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Kohlschutter-Tonz syndrome, 226750						False	1	100;0;0	0.11	False		ENSG00000067836	ENSG00000067836	HGNC:29478													
ROR2	gene	ROR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Brachydactyly, type B1, 113000; Robinow syndrome, autosomal; recessive, 268310;  						False	1	100;0;0	0.11	False		ENSG00000169071	ENSG00000169071	HGNC:10257													
RPGRIP1L	gene	RPGRIP1L	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7, 611560; Meckel syndrome 5, 611561; COACH syndrome, 216360;  						False	1	100;0;0	0.11	False		ENSG00000103494	ENSG00000103494	HGNC:29168													
RPS6KA3	gene	RPS6KA3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Coffin-Lowry syndrome, 303600; Mental retardation, X-linked; 19, 300844;  						False	1	100;0;0	0.11	False		ENSG00000177189	ENSG00000177189	HGNC:10432													
RTEL1	gene	RTEL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190;  						False	1	100;0;0	0.11	False		ENSG00000258366	ENSG00000258366	HGNC:15888													
RTN2	gene	RTN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 12, autosomal dominant, 604805						False	1	100;0;0	0.11	False		ENSG00000125744	ENSG00000125744	HGNC:10468													
RTTN	gene	RTTN	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with seizures, 614833; Microcephaly, evere growth failure, brain malformations and dermatitis						False	1	100;0;0	0.11	False		ENSG00000176225	ENSG00000176225	HGNC:18654													
RYR1	gene	RYR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Malignant hyperthermia susceptibility 1}, 145600; Central core; disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; King-Denborough syndrome, 145600 						False	1	100;0;0	0.11	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SACS	gene	SACS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia, Charlevoix-Saguenay type, 270550						False	1	100;0;0	0.11	False		ENSG00000151835	ENSG00000151835	HGNC:10519													
SALL1	gene	SALL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Townes-Brocks syndrome, 107480; Townes-Brocks; branchiootorenal-like syndrome, 107480;  						False	1	100;0;0	0.11	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
SAMHD1	gene	SAMHD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 5, 612952; Chilblain lupus 2, 614415;  						False	1	100;0;0	0.11	False		ENSG00000101347	ENSG00000101347	HGNC:15925													
SATB2	gene	SATB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Glass syndrome, 612313						False	1	100;0;0	0.11	False		ENSG00000119042	ENSG00000119042	HGNC:21637													
SBDS	gene	SBDS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Shwachman-Bodian-Diamond syndrome, 260400						False	1	100;0;0	0.11	False		ENSG00000126524	ENSG00000126524	HGNC:19440													
SBF2	gene	SBF2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4B2, 604563						False	1	100;0;0	0.11	False		ENSG00000133812	ENSG00000133812	HGNC:2135													
SC5D	gene	SC5D	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Lathosterolosis, 607330						False	1	100;0;0	0.11	False		ENSG00000109929	ENSG00000109929	HGNC:10547													
SCARB2	gene	SCARB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 4, with or without renal failure, 254900;  						False	1	100;0;0	0.11	False		ENSG00000138760	ENSG00000138760	HGNC:1665													
SCN11A	gene	SCN11A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552;  						False	1	100;0;0	0.11	False		ENSG00000168356	ENSG00000168356	HGNC:10583													
SCN1A	gene	SCN1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Dravet syndrome, 607208; Migraine, familial hemiplegic, 3, 609634; Febrile seizures, familial, 3A, 604403;  						False	1	100;0;0	0.11	False		ENSG00000144285	ENSG00000144285	HGNC:10585													
SCN1B	gene	SCN1B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Brugada syndrome 5, 612838; Cardiac conduction defect, nonspecific, 612838; Atrial fibrillation, familial, 13, 615377;  						False	1	100;0;0	0.11	False		ENSG00000105711	ENSG00000105711	HGNC:10586													
SCN2A	gene	SCN2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Seizures, benign familial infantile, 3, 607745; Epileptic; encephalopathy, early infantile, 11, 613721;  						False	1	100;0;0	0.11	False		ENSG00000136531	ENSG00000136531	HGNC:10588													
SCN4A	gene	SCN4A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperkalemic periodic paralysis, type 2, 170500; Paramyotonia; congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Myasthenic syndrome, acetazolamide-responsive, 614198; Hypokalemic periodic paralysis, type 2, 613345 						False	1	100;0;0	0.11	False		ENSG00000007314	ENSG00000007314	HGNC:10591													
SCN8A	gene	SCN8A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy, early infantile, 13, 614558;  						False	1	100;0;0	0.11	False		ENSG00000196876	ENSG00000196876	HGNC:10596													
SCN9A	gene	SCN9A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Erythermalgia, primary, 133020; Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Small fiber neuropathy, 133020; {Dravet syndrome, modifier of}, 607208; HSAN2D, autosomal recessive, 243000						False	1	100;0;0	0.11	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
SCO1	gene	SCO1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hepatic failure, early onset, and neurologic disorder; Mitochondrial complex IV deficiency						False	1	100;0;0	0.11	False		ENSG00000133028	ENSG00000133028	HGNC:10603													
SCO2	gene	SCO2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c; oxidase deficiency 1, 604377; Myopia 6, 608908;  						False	1	100;0;0	0.11	False		ENSG00000130489	ENSG00000130489	HGNC:10604													
SDHA	gene	SDHA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000; Mitochondrial respiratory chain complex; II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165;  						False	1	100;0;0	0.11	False		ENSG00000073578	ENSG00000073578	HGNC:10680													
SDHAF1	gene	SDHAF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex II deficiency, 252011						False	1	100;0;0	0.11	False		ENSG00000205138	ENSG00000205138	HGNC:33867													
SETBP1	gene	SETBP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Schinzel-Giedion midface retraction syndrome, 269150; Mental retardation, autosomal dominant 29, 616078;  						False	1	100;0;0	0.11	False		ENSG00000152217	ENSG00000152217	HGNC:15573													
SETD5	gene	SETD5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000168137	ENSG00000168137	HGNC:25566													
SETX	gene	SETX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ataxia-ocular apraxia-2, 606002; Amyotrophic lateral sclerosis; 4, juvenile, 602433;  						False	1	100;0;0	0.11	False		ENSG00000107290	ENSG00000107290	HGNC:445													
SF3B4	gene	SF3B4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrofacial dysostosis 1, Nager type, 154400						False	1	100;0;0	0.11	False		ENSG00000143368	ENSG00000143368	HGNC:10771													
SGCE	gene	SGCE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia-11, myoclonic, 159900						False	1	100;0;0	0.11	False		ENSG00000127990	ENSG00000127990	HGNC:10808													
SGSH	gene	SGSH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900						False	1	100;0;0	0.11	False		ENSG00000181523	ENSG00000181523	HGNC:10818													
SH3TC2	gene	SH3TC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of; the median nerve, mild, 613353;  						False	1	100;0;0	0.11	False		ENSG00000169247	ENSG00000169247	HGNC:29427													
SHANK3	gene	SHANK3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phelan-McDermid syndrome, 606232; {Schizophrenia 15}, 613950; Rett syndrome (RTT)						False	1	100;0;0	0.11	False		ENSG00000251322	ENSG00000251322	HGNC:14294													
SHH	gene	SHH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly-3, 142945; Single median maxillary central; incisor, 147250; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160;  						False	1	100;0;0	0.11	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
SHOC2	gene	SHOC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan-like syndrome with loose anagen hair, 607721						False	1	100;0;0	0.11	False		ENSG00000108061	ENSG00000108061	HGNC:15454													
SIGMAR1	gene	SIGMAR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Amyotrophic lateral sclerosis 16, juvenile, 614373						False	1	100;0;0	0.11	False		ENSG00000147955	ENSG00000147955	HGNC:8157													
SIK1	gene	SIK1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	100;0;0	0.11	False		ENSG00000142178	ENSG00000142178	HGNC:11142													
SIL1	gene	SIL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Marinesco-Sjogren syndrome, 248800						False	1	100;0;0	0.11	False		ENSG00000120725	ENSG00000120725	HGNC:24624													
SIX3	gene	SIX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly-2, 157170; Schizencephaly, 269160						False	1	100;0;0	0.11	False		ENSG00000138083	ENSG00000138083	HGNC:10889													
SKI	gene	SKI	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Shprintzen-Goldberg syndrome, 182212						False	1	100;0;0	0.11	False		ENSG00000157933	ENSG00000157933	HGNC:10896													
SLC12A6	gene	SLC12A6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Agenesis of the corpus callosum with peripheral neuropathy, 218000;  						False	1	100;0;0	0.11	False		ENSG00000140199	ENSG00000140199	HGNC:10914													
SLC13A5	gene	SLC13A5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 25, 615905						False	1	100;0;0	0.11	False		ENSG00000141485	ENSG00000141485	HGNC:23089													
SLC16A2	gene	SLC16A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Allan-Herndon-Dudley syndrome, 300523						False	1	100;0;0	0.11	False		ENSG00000147100	ENSG00000147100	HGNC:10923													
SLC17A5	gene	SLC17A5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Salla disease, 604369; Sialic acid storage disorder, infantile, 269920;  						False	1	100;0;0	0.11	False		ENSG00000119899	ENSG00000119899	HGNC:10933													
SLC19A3	gene	SLC19A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Thiamine metabolism dysfunction syndrome 2 (biotin- or; thiamine-responsive encephalopathy type 2), 607483;  						False	1	100;0;0	0.11	False		ENSG00000135917	ENSG00000135917	HGNC:16266													
SLC20A2	gene	SLC20A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Basal ganglia calcification, idiopathic, 1, 213600						False	1	100;0;0	0.11	False		ENSG00000168575	ENSG00000168575	HGNC:10947													
SLC22A5	gene	SLC22A5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Carnitine deficiency, systemic primary, 212140						False	1	100;0;0	0.11	False		ENSG00000197375	ENSG00000197375	HGNC:10969													
SLC25A15	gene	SLC25A15	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970;  						False	1	100;0;0	0.11	False		ENSG00000102743	ENSG00000102743	HGNC:10985													
SLC25A20	gene	SLC25A20	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Carnitine-acylcarnitine translocase deficiency, 212138						False	1	100;0;0	0.11	False		ENSG00000178537	ENSG00000178537	HGNC:1421													
SLC25A22	gene	SLC25A22	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 3, 609304						False	1	100;0;0	0.11	False		ENSG00000177542	ENSG00000177542	HGNC:19954													
SLC2A1	gene	SLC2A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome; 2, 612126; {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847; Dystonia 9, 601042;  						False	1	100;0;0	0.11	False		ENSG00000117394	ENSG00000117394	HGNC:11005													
SLC2A10	gene	SLC2A10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome, 208050						False	1	100;0;0	0.11	False		ENSG00000197496	ENSG00000197496	HGNC:13444													
SLC2A2	gene	SLC2A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Diabetes mellitus, noninsulin-dependent}, 135853; Fanconi-Bickel; syndrome, 227810;  						False	1	100;0;0	0.11	False		ENSG00000163581	ENSG00000163581	HGNC:11006													
SLC33A1	gene	SLC33A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 42, autosomal dominant, 612539; Congenital cataracts, hearing loss, and neurodegeneration, 614482;  						False	1	100;0;0	0.11	False		ENSG00000169359	ENSG00000169359	HGNC:95													
SLC35A2	gene	SLC35A2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Congenital disorder of glycosylation, type IIm, 300896						False	1	100;0;0	0.11	False		ENSG00000102100	ENSG00000102100	HGNC:11022													
SLC35C1	gene	SLC35C1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIc, 266265						False	1	100;0;0	0.11	False		ENSG00000181830	ENSG00000181830	HGNC:20197													
SLC46A1	gene	SLC46A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Folate malabsorption, hereditary, 229050						False	1	100;0;0	0.11	False		ENSG00000076351	ENSG00000076351	HGNC:30521													
SLC4A1	gene	SLC4A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ovalocytosis; Spherocytosis, type 4, 612653; [Malaria, resistance to], 611162; Renal tubular acidosis, distal, AD, 179800; Renal tubular acidosis, distal, AR, 611590; [Blood group, Diego], 110500; [Blood group, Waldner], 112010; [Blood group, Wright], 112050; [Blood group, Froese], 601551; [Blood group, Swann], 601550						False	1	100;0;0	0.11	False		ENSG00000004939	ENSG00000004939	HGNC:11027													
SLC4A4	gene	SLC4A4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Renal tubular acidosis, proximal, with ocular abnormalities, 604278;  						False	1	100;0;0	0.11	False		ENSG00000080493	ENSG00000080493	HGNC:11030													
SLC52A3	gene	SLC52A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 1, 211530; Fazio-Londe disease, 211500;  						False	1	100;0;0	0.11	False		ENSG00000101276	ENSG00000101276	HGNC:16187													
SLC5A5	gene	SLC5A5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Thyroid dyshormonogenesis 1, 274400						False	1	100;0;0	0.11	False		ENSG00000105641	ENSG00000105641	HGNC:11040													
SLC6A1	gene	SLC6A1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown							False	1	100;0;0	0.11	False		ENSG00000157103	ENSG00000157103	HGNC:11042													
SLC6A17	gene	SLC6A17	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown							False	1	100;0;0	0.11	False		ENSG00000197106	ENSG00000197106	HGNC:31399													
SLC6A19	gene	SLC6A19	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Unknown	Hartnup disorder, 234500; Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500;  						False	1	100;0;0	0.11	False		ENSG00000174358	ENSG00000174358	HGNC:27960													
SLC6A3	gene	SLC6A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	{Nicotine dependence, protection against}, 188890; Parkinsonism-dystonia, infantile, 613135;  						False	1	100;0;0	0.11	False		ENSG00000142319	ENSG00000142319	HGNC:11049													
SLC6A5	gene	SLC6A5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hyperekplexia 3, 614618						False	1	100;0;0	0.11	False		ENSG00000165970	ENSG00000165970	HGNC:11051													
SLC6A8	gene	SLC6A8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cerebral creatine deficiency syndrome 1, 300352						False	1	100;0;0	0.11	False		ENSG00000130821	ENSG00000130821	HGNC:11055													
SLC9A6	gene	SLC9A6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Christianson type, 300243						False	1	100;0;0	0.11	False		ENSG00000198689	ENSG00000198689	HGNC:11079													
SLX4	gene	SLX4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group P, 613951						False	1	100;0;0	0.11	False		ENSG00000188827	ENSG00000188827	HGNC:23845													
SMARCA2	gene	SMARCA2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nicolaides-Baraitser syndrome, 601358						False	1	100;0;0	0.11	False		ENSG00000080503	ENSG00000080503	HGNC:11098													
SMARCA4	gene	SMARCA4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Rhabdoid tumor predisposition syndrome 2}, 613325; Mental; retardation, autosomal dominant 16, 614609;  						False	1	100;0;0	0.11	False		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMARCAL1	gene	SMARCAL1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Schimke immunoosseous dysplasia, 242900						False	1	100;0;0	0.11	False		ENSG00000138375	ENSG00000138375	HGNC:11102													
SMARCB1	gene	SMARCB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rhabdoid tumors, somatic, 609322; {Rhabdoid predisposition; syndrome 1}, 609322; Mental retardation, autosomal dominant 15, 614608; {Schwannomatosis-1, susceptibility to}, 162091;  						False	1	100;0;0	0.11	False		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMC1A	gene	SMC1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cornelia de Lange syndrome 2, 300590						False	1	100;0;0	0.11	False		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMOC1	gene	SMOC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microphthalmia with limb anomalies, 206920						False	1	100;0;0	0.11	False		ENSG00000198732	ENSG00000198732	HGNC:20318													
SMPD1	gene	SMPD1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type; B, 607616;  						False	1	100;0;0	0.11	False		ENSG00000166311	ENSG00000166311	HGNC:11120													
SNCA	gene	SNCA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Parkinson disease 4, 605543; Dementia, Lewy body, 127750; Parkinson disease 1, 168601;  						False	1	100;0;0	0.11	False		ENSG00000145335	ENSG00000145335	HGNC:11138													
SNRPB	gene	SNRPB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebro-costo-mandibular syndrome						False	1	100;0;0	0.11	False		ENSG00000125835	ENSG00000125835	HGNC:11153													
SNX14	gene	SNX14	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000135317	ENSG00000135317	HGNC:14977													
SOS1	gene	SOS1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fibromatosis, gingival, 135300; Noonan syndrome 4, 610733						False	1	100;0;0	0.11	False		ENSG00000115904	ENSG00000115904	HGNC:11187													
SOX10	gene	SOX10	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome, type 4C, 613266; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; PCWH syndrome, 609136;  						False	1	100;0;0	0.11	False		ENSG00000100146	ENSG00000100146	HGNC:11190													
SOX2	gene	SOX2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia; and abnormalities of the central nervous system, 206900;  						False	1	100;0;0	0.11	False		ENSG00000181449	ENSG00000181449	HGNC:11195													
SOX3	gene	SOX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Mental retardation, X-linked, with isolated growth hormone; deficiency, 300123; Panhypopituitarism, X-linked, 312000;  						False	1	100;0;0	0.11	False		ENSG00000134595	ENSG00000134595	HGNC:11199													
SPART	gene	SPART	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Troyer syndrome, 275900						False	1	100;0;0	0.11	False		ENSG00000133104	ENSG00000133104	HGNC:18514													
SPAST	gene	SPAST	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 4, autosomal dominant, 182601						False	1	100;0;0	0.11	False		ENSG00000021574	ENSG00000021574	HGNC:11233													
SPEG	gene	SPEG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Centronuclear myopathy 5 ( 615959)						False	1	100;0;0	0.11	False		ENSG00000072195	ENSG00000072195	HGNC:16901													
SPG11	gene	SPG11	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 11, autosomal recessive, 604360						False	1	100;0;0	0.11	False		ENSG00000104133	ENSG00000104133	HGNC:11226													
SPG21	gene	SPG21	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mast syndrome, 248900						False	1	100;0;0	0.11	False		ENSG00000090487	ENSG00000090487	HGNC:20373													
SPG7	gene	SPG7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 7, autosomal recessive, 607259						False	1	100;0;0	0.11	False		ENSG00000197912	ENSG00000197912	HGNC:11237													
SPR	gene	SPR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716;  						False	1	100;0;0	0.11	False		ENSG00000116096	ENSG00000116096	HGNC:11257													
SPRED1	gene	SPRED1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Legius syndrome, 611431						False	1	100;0;0	0.11	False		ENSG00000166068	ENSG00000166068	HGNC:20249													
SPTAN1	gene	SPTAN1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 5, 613477						False	1	100;0;0	0.11	False		ENSG00000197694	ENSG00000197694	HGNC:11273													
SPTBN2	gene	SPTBN2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386;  						False	1	100;0;0	0.11	False		ENSG00000173898	ENSG00000173898	HGNC:11276													
SPTLC2	gene	SPTLC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, hereditary sensory and autonomic, type IC, 613640						False	1	100;0;0	0.11	False		ENSG00000100596	ENSG00000100596	HGNC:11278													
SRCAP	gene	SRCAP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Floating-Harbor syndrome, 136140						False	1	100;0;0	0.11	False		ENSG00000080603	ENSG00000080603	HGNC:16974													
SRD5A3	gene	SRD5A3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713;  						False	1	100;0;0	0.11	False		ENSG00000128039	ENSG00000128039	HGNC:25812													
ST3GAL3	gene	ST3GAL3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 12, 611090; Epileptic; encephalopathy, early infantile, 15, 615006;  						False	1	100;0;0	0.11	False		ENSG00000126091	ENSG00000126091	HGNC:10866													
ST3GAL5	gene	ST3GAL5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Amish infantile epilepsy syndrome, 609056						False	1	100;0;0	0.11	False		ENSG00000115525	ENSG00000115525	HGNC:10872													
STAMBP	gene	STAMBP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly-capillary malformation syndrome, 614261						False	1	100;0;0	0.11	False		ENSG00000124356	ENSG00000124356	HGNC:16950													
STIL	gene	STIL	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 7, primary, autosomal recessive, 612703						False	1	100;0;0	0.11	False		ENSG00000123473	ENSG00000123473	HGNC:10879													
STRA6	gene	STRA6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186;  						False	1	100;0;0	0.11	False		ENSG00000137868	ENSG00000137868	HGNC:30650													
STRADA	gene	STRADA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087						False	1	100;0;0	0.11	False		ENSG00000266173	ENSG00000266173	HGNC:30172													
STS	gene	STS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ichthyosis, X-linked, 308100						False	1	100;0;0	0.11	False		ENSG00000101846	ENSG00000101846	HGNC:11425													
STUB1	gene	STUB1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 16, 615768						False	1	100;0;0	0.11	False		ENSG00000103266	ENSG00000103266	HGNC:11427													
STX1B	gene	STX1B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Generalized epilepsy with febrile seizures plus, type 9, 616172;  						False	1	100;0;0	0.11	False		ENSG00000099365	ENSG00000099365	HGNC:18539													
STXBP1	gene	STXBP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epileptic encephalopathy, early infantile, 4, 612164						False	1	100;0;0	0.11	False		ENSG00000136854	ENSG00000136854	HGNC:11444													
SUCLG1	gene	SUCLG1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type; with methylmalonic aciduria), 245400;  						False	1	100;0;0	0.11	False		ENSG00000163541	ENSG00000163541	HGNC:11449													
SUMF1	gene	SUMF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Multiple sulfatase deficiency, 272200						False	1	100;0;0	0.11	False		ENSG00000144455	ENSG00000144455	HGNC:20376													
SURF1	gene	SURF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, due to COX deficiency, 256000						False	1	100;0;0	0.11	False		ENSG00000148290	ENSG00000148290	HGNC:11474													
SYNE1	gene	SYNE1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 8, 610743; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998;  						False	1	100;0;0	0.11	False		ENSG00000131018	ENSG00000131018	HGNC:17089													
SYNGAP1	gene	SYNGAP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 5, 612621						False	1	100;0;0	0.11	False		ENSG00000197283	ENSG00000197283	HGNC:11497													
SYNJ1	gene	SYNJ1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Parkinson disease 20, early-onset, 615530						False	1	100;0;0	0.11	False		ENSG00000159082	ENSG00000159082	HGNC:11503													
SYP	gene	SYP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 96, 300802						False	1	100;0;0	0.11	False		ENSG00000102003	ENSG00000102003	HGNC:11506													
TAF1	gene	TAF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dystonia-Parkinsonism, X-linked, 314250						False	1	100;0;0	0.11	False		ENSG00000147133	ENSG00000147133	HGNC:11535													
TARDBP	gene	TARDBP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069;  						False	1	100;0;0	0.11	False		ENSG00000120948	ENSG00000120948	HGNC:11571													
TAT	gene	TAT	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type II, 276600						False	1	100;0;0	0.11	False		ENSG00000198650	ENSG00000198650	HGNC:11573													
TAZ	gene	TAZ	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Barth syndrome, 302060						False	1	100;0;0	0.11	False		ENSG00000102125	ENSG00000102125	HGNC:11577													
TBC1D24	gene	TBC1D24	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Myoclonic epilepsy, infantile, familial, 605021; Epileptic; encephalopathy, early infantile, 16, 615338; DOOR syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044 						False	1	100;0;0	0.11	False		ENSG00000162065	ENSG00000162065	HGNC:29203													
TBCE	gene	TBCE	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Kenny-Caffey syndrome-1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410;  						False	1	100;0;0	0.11	False		ENSG00000116957	ENSG00000116957	HGNC:11582													
TBP	gene	TBP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600;  						False	1	100;0;0	0.11	False		ENSG00000112592	ENSG00000112592	HGNC:11588													
TBX1	gene	TBX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Conotruncal anomaly face syndrome, 217095; DiGeorge syndrome, 188400; Velocardiofacial syndrome, 192430; Tetralogy of Fallot, 187500;  						False	1	100;0;0	0.11	False		ENSG00000184058	ENSG00000184058	HGNC:11592													
TBX3	gene	TBX3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ulnar-mammary syndrome, 181450						False	1	100;0;0	0.11	False		ENSG00000135111	ENSG00000135111	HGNC:11602													
TCF4	gene	TCF4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pitt-Hopkins syndrome, 610954						False	1	100;0;0	0.11	False		ENSG00000196628	ENSG00000196628	HGNC:11634													
TCOF1	gene	TCOF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Treacher Collins syndrome 1, 154500						False	1	100;0;0	0.11	False		ENSG00000070814	ENSG00000070814	HGNC:11654													
TECPR2	gene	TECPR2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 49, autosomal recessive, 615031						False	1	100;0;0	0.11	False		ENSG00000196663	ENSG00000196663	HGNC:19957													
TFAP2A	gene	TFAP2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Branchiooculofacial syndrome, 113620						False	1	100;0;0	0.11	False		ENSG00000137203	ENSG00000137203	HGNC:11742													
TFAP2B	gene	TFAP2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Char syndrome, 169100						False	1	100;0;0	0.11	False		ENSG00000008196	ENSG00000008196	HGNC:11743													
TFG	gene	TFG	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hereditary motor and sensory neuropathy, proximal type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658;  						False	1	100;0;0	0.11	False		ENSG00000114354	ENSG00000114354	HGNC:11758													
TGFBR1	gene	TGFBR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loeys-Dietz syndrome, type 1, 609192; {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800;  						False	1	100;0;0	0.11	False		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGIF1	gene	TGIF1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly-4, 142946						False	1	100;0;0	0.11	False		ENSG00000177426	ENSG00000177426	HGNC:11776													
TGM6	gene	TGM6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 35, 613908						False	1	100;0;0	0.11	False		ENSG00000166948	ENSG00000166948	HGNC:16255													
TH	gene	TH	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Segawa syndrome, recessive, 605407						False	1	100;0;0	0.11	False		ENSG00000180176	ENSG00000180176	HGNC:11782													
THAP1	gene	THAP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 6, torsion, 602629						False	1	100;0;0	0.11	False		ENSG00000131931	ENSG00000131931	HGNC:20856													
THRA	gene	THRA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypothyroidism, congenital, nongoitrous, 6, 614450						False	1	100;0;0	0.11	False		ENSG00000126351	ENSG00000126351	HGNC:11796													
TIMM8A	gene	TIMM8A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150;  						False	1	100;0;0	0.11	False		ENSG00000126953	ENSG00000126953	HGNC:11817													
TK2	gene	TK2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560						False	1	100;0;0	0.11	False		ENSG00000166548	ENSG00000166548	HGNC:11831													
TMCO1	gene	TMCO1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Craniofacial dysmorphism, skeletal anomalies, and mental retardation; syndrome, 213980;  						False	1	100;0;0	0.11	False		ENSG00000143183	ENSG00000143183	HGNC:18188													
TMEM165	gene	TMEM165	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIk, 614727						False	1	100;0;0	0.11	False		ENSG00000134851	ENSG00000134851	HGNC:30760													
TMEM237	gene	TMEM237	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 14, 614424						False	1	100;0;0	0.11	False		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM240	gene	TMEM240	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 21, 607454 						False	1	100;0;0	0.11	False		ENSG00000205090	ENSG00000205090	HGNC:25186													
TMEM5	gene	TMEM5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and; eye anomalies), type A, 10, 615041;  						False	1	100;0;0	0.11	False		ENSG00000118600	ENSG00000118600	HGNC:13530													
TMEM67	gene	TMEM67	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 3, 607361; Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifier of}, 209900; COACH syndrome, 216360; Nephronophthisis 11, 613550;  						False	1	100;0;0	0.11	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMEM70	gene	TMEM70	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;  						False	1	100;0;0	0.11	False		ENSG00000175606	ENSG00000175606	HGNC:26050													
TOR1A	gene	TOR1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia-1, torsion, 128100; Dystonia, early-onset atypical, with myoclonic features; {Dystonia-1, modifier of};  						False	1	100;0;0	0.11	False		ENSG00000136827	ENSG00000136827	HGNC:3098													
TP63	gene	TP63	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome; 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400 						False	1	100;0;0	0.11	False		ENSG00000073282	ENSG00000073282	HGNC:15979													
TPP1	gene	TPP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270;  						False	1	100;0;0	0.11	False		ENSG00000166340	ENSG00000166340	HGNC:2073													
TRAPPC9	gene	TRAPPC9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 13, 613192						False	1	100;0;0	0.11	False		ENSG00000167632	ENSG00000167632	HGNC:30832													
TREX1	gene	TREX1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700 						False	1	100;0;0	0.11	False		ENSG00000213689	ENSG00000213689	HGNC:12269													
TRIM32	gene	TRIM32	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2H, 254110; ?Bardet-Biedl; syndrome 11, 615988;  						False	1	100;0;0	0.11	False		ENSG00000119401	ENSG00000119401	HGNC:16380													
TRIM37	gene	TRIM37	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mulibrey nanism, 253250						False	1	100;0;0	0.11	False		ENSG00000108395	ENSG00000108395	HGNC:7523													
TRMT10A	gene	TRMT10A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	 Microcephaly, short stature, and impaired glucose metabolism 1, 616033						False	1	100;0;0	0.11	False		ENSG00000145331	ENSG00000145331	HGNC:28403													
TSC1	gene	TSC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690; Focal cortical dysplasia, Taylor balloon cell type, 607341;  						False	1	100;0;0	0.11	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tuberous sclerosis-2, 613254; Lymphangioleiomyomatosis, somatic, 606690;  						False	1	100;0;0	0.11	False		ENSG00000103197	ENSG00000103197	HGNC:12363													
TSEN54	gene	TSEN54	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar; hypoplasia type 4, 225753;  						False	1	100;0;0	0.11	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
TSHB	gene	TSHB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Hypothryoidism, congenital, nongoitrous 4, 275100						False	1	100;0;0	0.11	False		ENSG00000134200	ENSG00000134200	HGNC:12372													
TSHR	gene	TSHR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypothyroidism, congenital, nongoitrous, 1 275200; Thyroid; adenoma, hyperfunctioning, somatic; Hyperthyroidism, nonautoimmune, 609152; Thyroid carcinoma with thyrotoxicosis; Hyperthyroidism, familial; gestational, 603373 						False	1	100;0;0	0.11	False		ENSG00000165409	ENSG00000165409	HGNC:12373													
TSPAN7	gene	TSPAN7	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 58, 300210						False	1	100;0;0	0.11	False		ENSG00000156298	ENSG00000156298	HGNC:11854													
TTBK2	gene	TTBK2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 11, 604432						False	1	100;0;0	0.11	False		ENSG00000128881	ENSG00000128881	HGNC:19141													
TTC19	gene	TTC19	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex III deficiency, nuclear type 2, 615157						False	1	100;0;0	0.11	False		ENSG00000011295	ENSG00000011295	HGNC:26006													
TTC8	gene	TTC8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 8, 615985; ?Retinitis pigmentosa 51, 613464;  						False	1	100;0;0	0.11	False		ENSG00000165533	ENSG00000165533	HGNC:20087													
TTPA	gene	TTPA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Ataxia with isolated vitamin E deficiency, 277460						False	1	100;0;0	0.11	False		ENSG00000137561	ENSG00000137561	HGNC:12404													
TUBA1A	gene	TUBA1A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lissencephaly 3, 611603						False	1	100;0;0	0.11	False		ENSG00000167552	ENSG00000167552	HGNC:20766													
TUBA8	gene	TUBA8	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with optic nerve hypoplasia, 613180						False	1	100;0;0	0.11	False		ENSG00000183785	ENSG00000183785	HGNC:12410													
TUBB	gene	TUBB	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical dysplasia, complex, with other brain malformations 6, 615771;  						False	1	100;0;0	0.11	False		ENSG00000196230	ENSG00000196230	HGNC:20778													
TUBB2A	gene	TUBB2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cortical dysplasia, complex, with other brain malformations 5, 615763;  						False	1	100;0;0	0.11	False		ENSG00000137267	ENSG00000137267	HGNC:12412													
TUBB2B	gene	TUBB2B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polymicrogyria, symmetric or asymmetric, 610031						False	1	100;0;0	0.11	False		ENSG00000137285	ENSG00000137285	HGNC:30829													
TUBB4A	gene	TUBB4A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438;  						False	1	100;0;0	0.11	False		ENSG00000104833	ENSG00000104833	HGNC:20774													
TUBGCP6	gene	TUBGCP6	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270;  						False	1	100;0;0	0.11	False		ENSG00000128159	ENSG00000128159	HGNC:18127													
TUSC3	gene	TUSC3	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 7, 611093						False	1	100;0;0	0.11	False		ENSG00000104723	ENSG00000104723	HGNC:30242													
TWIST1	gene	TWIST1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Saethre-Chotzen syndrome, 101400; Saethre-Chotzen syndrome with; eyelid anomalies, 101400; Craniosynostosis, type 1, 123100; Robinow-Sorauf syndrome, 180750;  						False	1	100;0;0	0.11	False		ENSG00000122691	ENSG00000122691	HGNC:12428													
TYR	gene	TYR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Albinism, oculocutaneous, type IA, 203100; Waardenburg; syndrome/albinism, digenic, 103470; Albinism, oculocutaneous, type IB, 606952; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800						False	1	100;0;0	0.11	False		ENSG00000077498	ENSG00000077498	HGNC:12442													
UBE2A	gene	UBE2A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Nascimento-type, 300860						False	1	100;0;0	0.11	False		ENSG00000077721	ENSG00000077721	HGNC:12472													
UBE3A	gene	UBE3A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Angelman syndrome, 105830						False	1	100;0;0	0.11	False		ENSG00000114062	ENSG00000114062	HGNC:12496													
UBE3B	gene	UBE3B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Blepharophimosis-ptosis-intellectual disability syndrome, 615057;  						False	1	100;0;0	0.11	False		ENSG00000151148	ENSG00000151148	HGNC:13478													
UBR1	gene	UBR1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Johanson-Blizzard syndrome, 243800						False	1	100;0;0	0.11	False		ENSG00000159459	ENSG00000159459	HGNC:16808													
UMPS	gene	UMPS	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Orotic aciduria, 258900						False	1	100;0;0	0.11	False		ENSG00000114491	ENSG00000114491	HGNC:12563													
UPF3B	gene	UPF3B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 14, 300676						False	1	100;0;0	0.11	False		ENSG00000125351	ENSG00000125351	HGNC:20439													
UROC1	gene	UROC1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Urocanase deficiency, 276880						False	1	100;0;0	0.11	False		ENSG00000159650	ENSG00000159650	HGNC:26444													
VAMP1	gene	VAMP1	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			Other - please specify in evaluation comments	Spastic ataxia 1, autosomal dominant, 108600						False	1	100;0;0	0.11	False		ENSG00000139190	ENSG00000139190	HGNC:12642													
VDR	gene	VDR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Rickets, vitamin D-resistant, type IIA, 277440; ?Osteoporosis, involutional, 166710;  						False	1	100;0;0	0.11	False		ENSG00000111424	ENSG00000111424	HGNC:12679													
VIPAS39	gene	VIPAS39	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, 613404						False	1	100;0;0	0.11	False		ENSG00000151445	ENSG00000151445	HGNC:20347													
VLDLR	gene	VLDLR	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia and mental retardation with or without; quadrupedal locomotion 1, 224050;  						False	1	100;0;0	0.11	False		ENSG00000147852	ENSG00000147852	HGNC:12698													
VPS13B	gene	VPS13B	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome, 216550						False	1	100;0;0	0.11	False		ENSG00000132549	ENSG00000132549	HGNC:2183													
VPS35	gene	VPS35	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Parkinson disease 17, 614203						False	1	100;0;0	0.11	False		ENSG00000069329	ENSG00000069329	HGNC:13487													
WASHC5	gene	WASHC5	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome, 220210;  						False	1	100;0;0	0.11	False		ENSG00000164961	ENSG00000164961	HGNC:28984													
WDPCP	gene	WDPCP	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085;  						False	1	100;0;0	0.11	False		ENSG00000143951	ENSG00000143951	HGNC:28027													
WDR45	gene	WDR45	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Neurodegeneration with brain iron accululation 5, 300894						False	1	100;0;0	0.11	False		ENSG00000196998	ENSG00000196998	HGNC:28912													
WDR60	gene	WDR60	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;  						False	1	100;0;0	0.11	False		ENSG00000126870	ENSG00000126870	HGNC:21862													
WDR62	gene	WDR62	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Microcephaly 2, primary, autosomal recessive, with or without; cortical malformations, 604317;  						False	1	100;0;0	0.11	False		ENSG00000075702	ENSG00000075702	HGNC:24502													
WNT5A	gene	WNT5A	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Robinow syndrome, autosomal dominant, 180700						False	1	100;0;0	0.11	False		ENSG00000114251	ENSG00000114251	HGNC:12784													
WWOX	gene	WWOX	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Esophageal squamous cell carcinoma, somatic, 133239; Spinocrebellar ataxia, autosomal recessive 12, 614322;  Epileptic encephalopathy, early infantile, 616211						False	1	100;0;0	0.11	False		ENSG00000186153	ENSG00000186153	HGNC:12799													
XPA	gene	XPA	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group A, 278700						False	1	100;0;0	0.11	False		ENSG00000136936	ENSG00000136936	HGNC:12814													
XRCC4	gene	XRCC4	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.11	False		ENSG00000152422	ENSG00000152422	HGNC:12831													
ZBTB20	gene	ZBTB20	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Primrose syndrome, 259050						False	1	100;0;0	0.11	False		ENSG00000181722	ENSG00000181722	HGNC:13503													
ZC4H2	gene	ZC4H2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Wieacker-Wolff syndrome, 314580						False	1	100;0;0	0.11	False		ENSG00000126970	ENSG00000126970	HGNC:24931													
ZDHHC9	gene	ZDHHC9	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Raymond type, 300799						False	1	100;0;0	0.11	False		ENSG00000188706	ENSG00000188706	HGNC:18475													
ZEB2	gene	ZEB2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mowat-Wilson syndrome, 235730						False	1	100;0;0	0.11	False		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZFP57	gene	ZFP57	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, transient neonatal, 1, 601410						False	1	100;0;0	0.11	False		ENSG00000204644	ENSG00000204644	HGNC:18791													
ZFYVE26	gene	ZFYVE26	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 15, autosomal recessive, 270700						False	1	100;0;0	0.11	False		ENSG00000072121	ENSG00000072121	HGNC:20761													
ZIC2	gene	ZIC2	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly-5, 609637						False	1	100;0;0	0.11	False		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZMPSTE24	gene	ZMPSTE24	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			BIALLELIC, autosomal or pseudoautosomal	Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210;  						False	1	100;0;0	0.11	False		ENSG00000084073	ENSG00000084073	HGNC:12877													
ZNF711	gene	ZNF711	BRIDGE	BRIDGE_SPEED_NEURO_v2.0_20160416			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 97, 300803						False	1	100;0;0	0.11	False		ENSG00000147180	ENSG00000147180	HGNC:13128