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 AP5Z1 gene AP5Z1 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 Slabicki et al. (2010) i False 2 33;33;33 8.21 False ENSG00000242802 ENSG00000242802 HGNC:22197 ARHGEF28 gene ARHGEF28 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis, MONDO:0004976 23286752;24712971;28709720;27154192 False 2 0;100;0 8.21 False ENSG00000214944 ENSG00000214944 HGNC:30322 ATP2B3 gene ATP2B3 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 22912398;27653636;27632770;22912398 False 2 0;67;33 8.21 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP6AP2 gene ATP6AP2 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Parkinsonism with spasticity, X-linked, OMIM:300911;Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 23595882 False 2 0;67;33 8.21 False ENSG00000182220 ENSG00000182220 HGNC:18305 CCDC88C gene CCDC88C Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 40, OMIM:616053 25062847;30398676 False 2 0;67;33 8.21 False ENSG00000015133 ENSG00000015133 HGNC:19967 CIZ1 gene CIZ1 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia 23, MONDO:0013928 22447717 False 2 0;40;60 8.21 False ENSG00000148337 ENSG00000148337 HGNC:16744 COQ2 gene COQ2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal {Multiple system atrophy, susceptibility to}, OMIM:146500 23758206 False 2 0;100;0 8.21 False ENSG00000173085 ENSG00000173085 HGNC:25223 CST3 gene CST3 Expert list;Expert Review Amber;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, OMIM:105150;leukodystrophy, MONDO:0019046 38489591;38729262 False 2 0;100;0 8.21 False ENSG00000101439 ENSG00000101439 HGNC:2475 DNAJC13 gene DNAJC13 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 24218364;25186792;30537300 False 2 0;100;0 8.21 False ENSG00000138246 ENSG00000138246 HGNC:30343 EIF4G1 gene EIF4G1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinsons disease 18}, OMIM:614251 21907011 False 2 50;50;0 8.21 False ENSG00000114867 ENSG00000114867 HGNC:3296 EWSR1 gene EWSR1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 29170628;22454397 False 2 0;100;0 8.21 False ENSG00000182944 ENSG00000182944 HGNC:3508 GCDH gene GCDH Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Glutaricaciduria, type I, OMIM:231670 23884036;26316201 False 2 50;50;0 8.21 False ENSG00000105607 ENSG00000105607 HGNC:4189 GIGYF2 gene GIGYF2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 11}, OMIM:607688 20044296;26134514;18923002;19279319;19250854;19321232;20060621;19449032;18358451;19429085;20685231;19482505 False 2 50;50;0 8.21 False ENSG00000204120 ENSG00000204120 HGNC:11960 GLT8D1 gene GLT8D1 Expert list;Expert Review Amber Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial amyotrophic lateral sclerosis, MONDO:0005144 30811981;35525134;33581933;31653410;33714647;34746377 False 2 33;67;0 8.21 False ENSG00000016864 ENSG00000016864 HGNC:24870 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976;?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 25299611;23455423;27773581 False 2 0;100;0 8.21 False ENSG00000122566 ENSG00000122566 HGNC:5033 JAM2 gene JAM2 Expert Review Amber;Literature Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938;Fahr syndrome 31851307;37446066 False 2 100;0;0 8.21 False ENSG00000154721 ENSG00000154721 HGNC:14686 MARS2 gene MARS2 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, OMIM:611390 22448145;16672289 False 2 25;25;50 8.21 False ENSG00000247626 ENSG00000247626 HGNC:25133 MATR3 gene MATR3 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 25771394;26493020;28029397 False 2 0;100;0 8.21 False ENSG00000015479 ENSG00000015479 HGNC:6912 NR4A2 gene NR4A2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 24126627;15390059;15184637;25543265;27012974;19429166;15276233;12827450;28385514;16532445;12496759 False 2 0;100;0 8.21 False ENSG00000153234 ENSG00000153234 HGNC:7981 PRKRA gene PRKRA Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, OMIM:612067 24142417;25737287 26990861;18420150.;25914261;25737287;18243799;26990861;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;22842711;25142429 False 2 50;25;25 8.21 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRPH gene PRPH Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 25299611;15446584;15322088 False 2 0;100;0 8.21 False ENSG00000135406 ENSG00000135406 HGNC:9461 SIGMAR1 gene SIGMAR1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373 26088964;26078401;21031579;26088963;21842496;27821430 False 2 50;25;25 8.21 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC30A10 gene SLC30A10 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22926781;22341972;22934317;30272946;22341971;25778823 False 2 50;25;25 8.21 False ENSG00000196660 ENSG00000196660 HGNC:25355 SNCB gene SNCB Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dementia, Lewy body, OMIM:127750 15365127;21045828 False 2 0;100;0 8.21 False ENSG00000074317 ENSG00000074317 HGNC:11140 SORL1 gene SORL1 Expert Review Amber;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer's Disease 28537274;22472873;28595629;32587946 False 2 0;100;0 8.21 False ENSG00000137642 ENSG00000137642 HGNC:11185 TAF1 gene TAF1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia-Parkinsonism, X-linked, OMIM:314250 11714101;20301662;26769797;2368812;12928496;26637982;17273961;http://www.ncbi.nlm.nih.gov/books/NBK1155/;17668393;23184149;26879577 False 2 75;25;0 8.21 False ENSG00000147133 ENSG00000147133 HGNC:11535 TUBB4A gene TUBB4A Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, OMIM:612438;Dystonia 4, torsion, autosomal dominant, OMIM:128101 25374358;27809427;25497598 False 2 50;50;0 8.21 False Other ENSG00000104833 ENSG00000104833 HGNC:20774 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 8.21 False ENSG00000010256 ENSG00000010256 HGNC:12585 VPS13C gene VPS13C Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, OMIM:616840 26942284;28137300;28862745 False 2 0;100;0 8.21 False ENSG00000129003 ENSG00000129003 HGNC:23594 ATXN1_CAG str ATXN1 Expert Review Amber;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 2 100;0;0 8.21 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN3_CAG str ATXN3 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 2 100;0;0 8.21 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Amber;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 2 0;0;100 8.21 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FXN_GAA str FXN NHS GMS;Expert Review Amber;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 2 0;0;100 8.21 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 PPP2R2B_CAG str PPP2R2B Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 2 100;0;0 8.21 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43