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 AARS gene AARS Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 False 2 0;67;33 9.4 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCB7 gene ABCB7 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia OMIM:301310;X-linked sideroblastic anemia with ataxia MONDO:0010524 False 2 33;33;33 9.4 False ENSG00000131269 ENSG00000131269 HGNC:48 ADGRG1 gene ADGRG1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, Frontoparietal OMIM:606854;bilateral frontoparietal polymicrogyria MONDO:0011738;Polymicrogyria, perisylvian type OMIM:615752;polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333 False 2 33;33;33 9.4 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461 False 2 40;40;20 9.4 False ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, OMIM:614487 False 2 25;50;25 9.4 False ENSG00000141385 ENSG00000141385 HGNC:315 AIMP1 gene AIMP1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 21092922;30477741;30486714 False 2 25;50;25 9.4 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALS2 gene ALS2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Primary lateral sclerosis, juvenile, OMIM:606353 12145748;15247254;27601211 False 2 25;50;25 9.4 False ENSG00000003393 ENSG00000003393 HGNC:443 AMPD2 gene AMPD2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 63, 615686, AR;Hereditary Spastic Paraplegia?;Pontocerebellar hypoplasia, type 9, 615809, AR;Pontocerebellar hypolplasia (biallelic) Novarino et al. (2014);24482476;27159321 False 2 25;50;25 9.4 False ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hyoplasia 9 OMIM:615809;pontocerebellar hypoplasia type 9 MONDO:0014351 24482476 False 2 33;33;33 9.4 False ENSG00000116337 ENSG00000116337 HGNC:469 AP1S2 gene AP1S2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 False 2 33;33;33 9.4 False ENSG00000182287 ENSG00000182287 HGNC:560 AP4B1 gene AP4B1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 21620353;24700674 False 2 20;60;20 9.4 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401 20972249;21620353;21937992;32979048 False 2 20;60;20 9.4 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 19559397;24700674;29096665 False 2 20;60;20 9.4 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;seizures;Spastic paraplegia 52, autosomal recessive, 614067 21620353;27444738;25552650 False 2 20;60;20 9.4 False ENSG00000100478 ENSG00000100478 HGNC:575 AP5Z1 gene AP5Z1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 Slabicki et al. (2010) i False 2 33;33;33 9.4 False ENSG00000242802 ENSG00000242802 HGNC:22197 ARG1 gene ARG1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Progressive spastic tetraplegia;Argininaemia, 207800 2365823;1463019;23859858 False 2 25;50;25 9.4 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF28 gene ARHGEF28 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis, MONDO:0004976 23286752;24712971;28709720;27154192 False 2 0;100;0 9.4 False ENSG00000214944 ENSG00000214944 HGNC:30322 ARL6IP1 gene ARL6IP1 London North GLH;Expert Review Amber;NHS GMS;Yorkshire and North East GLH;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, 615685 24482476;28471035 False 2 67;33;0 9.4 False ENSG00000170540 ENSG00000170540 HGNC:697 ARX gene ARX Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 1, OMIM:308350;X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856;Partington syndrome, OMIM:309510;Partington syndrome, MONDO:0010654 29343471;17664398;26029707;31324350;29778428;23657928 False 2 0;100;0 9.4 False Other ENSG00000004848 ENSG00000004848 HGNC:18060 ATP2B3 gene ATP2B3 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 25953895;28807751;36207321 False 2 0;100;0 9.4 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP2B3 gene ATP2B3 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology Unknown ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 22912398;27653636;27632770;22912398 False 2 0;67;33 9.4 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP6AP2 gene ATP6AP2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH Adult-onset neurological disorders 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 9.4 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP8A2 gene ATP8A2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268;cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 22892528;29531481;30012219;31612321;27679995;20683487 False 2 50;25;25 9.4 False ENSG00000132932 ENSG00000132932 HGNC:13533 AUH gene AUH Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology 3-methylglutaconic aciduria, type I, OMIM:250950;Dystonia False 2 0;100;0 9.4 False ENSG00000148090 ENSG00000148090 HGNC:890 C12orf65 gene C12orf65 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 23188110;24080142;24198383;24284555;24424123;25995486;26380172 False 2 20;60;20 9.4 False ENSG00000130921 ENSG00000130921 HGNC:26784 CCDC88C gene CCDC88C Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 40, OMIM:616053 25062847;30398676 False 2 0;67;33 9.4 False ENSG00000015133 ENSG00000015133 HGNC:19967 CHCHD2 gene CHCHD2 London North GLH;NHS GMS;South West GLH;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant, OMIM:616710 Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015;26067110;26067114;25662902 False 2 0;67;33 9.4 False ENSG00000106153 ENSG00000106153 HGNC:21645 CHMP1A gene CHMP1A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8 OMIM:614961;pontocerebellar hypoplasia type 8 MONDO:0013990 23023333 False 2 25;25;50 9.4 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHP1 gene CHP1 Literature;Expert Review Amber Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 9.4 False ENSG00000187446 ENSG00000187446 HGNC:17433 CHP1 gene CHP1 Literature;Expert Review Amber Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 9.4 False ENSG00000187446 ENSG00000187446 HGNC:17433 CIZ1 gene CIZ1 London North GLH;NHS GMS;South West GLH;Expert Review Amber Adult-onset neurological disorders Neurology Dystonia 23, 614860 22447717 False 2 0;67;33 9.4 False ENSG00000148337 ENSG00000148337 HGNC:16744 CIZ1 gene CIZ1 Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology Unknown Dystonia 23, MONDO:0013928 22447717 False 2 0;40;60 9.4 False ENSG00000148337 ENSG00000148337 HGNC:16744 CLP1 gene CLP1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 10 OMIM:615803 24766809;29307788 False 2 25;25;50 9.4 False ENSG00000172409 ENSG00000172409 HGNC:16999 COQ2 gene COQ2 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal {Multiple system atrophy, susceptibility to}, OMIM:146500 23758206 False 2 0;100;0 9.4 False ENSG00000173085 ENSG00000173085 HGNC:25223 CST3 gene CST3 Expert Review Amber;NHS GMS;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, OMIM:105150;leukodystrophy, MONDO:0019046 38489591;38729262 False 2 0;100;0 9.4 False ENSG00000101439 ENSG00000101439 HGNC:2475 CYP2U1 gene CYP2U1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive OMIM:615030;hereditary spastic paraplegia 56 MONDO:0014015 23176821;24337409 False 2 20;60;20 9.4 False ENSG00000155016 ENSG00000155016 HGNC:20582 DDC gene DDC Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 19172410 False 2 0;100;0 9.4 False ENSG00000132437 ENSG00000132437 HGNC:2719 DNAJC13 gene DNAJC13 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 24218364;25186792;30537300 False 2 0;100;0 9.4 False ENSG00000138246 ENSG00000138246 HGNC:30343 DSTYK gene DSTYK Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 23, 270750, AR;Spastic paraplegia 23, 270750;Congenital anomalies of kidney and urinary tract 1, 610805, AD 28157540 False 2 25;75;0 9.4 False ENSG00000133059 ENSG00000133059 HGNC:29043 DYNC1H1 gene DYNC1H1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant MR 13, 614563;Charcot Marie Tooth, SMA, Intellectual disability False 2 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197102 ENSG00000197102 HGNC:2961 EBF3 gene EBF3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 28017370;28017372;28017373 False 2 25;50;25 9.4 False ENSG00000108001 ENSG00000108001 HGNC:19087 EEF2 gene EEF2 Expert Review Amber;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 26 OMIM:609306 23001565;33355653 False 2 0;100;0 9.4 False ENSG00000167658 ENSG00000167658 HGNC:3214 EIF4G1 gene EIF4G1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinsons disease 18}, OMIM:614251 21907011 False 2 50;50;0 9.4 False ENSG00000114867 ENSG00000114867 HGNC:3296 EIF4G1 gene EIF4G1 Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinsons disease 18, 614251 25368108 False 2 0;100;0 9.4 False ENSG00000114867 ENSG00000114867 HGNC:3296 ELOVL5 gene ELOVL5 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 38, 615957;Spinocerebellar ataxia 36 615957 False 2 33;33;33 9.4 False Other - please provide details in the comments ENSG00000012660 ENSG00000012660 HGNC:21308 ENTPD1 gene ENTPD1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 24482476;29691679;30652007 False 2 25;50;25 9.4 False ENSG00000138185 ENSG00000138185 HGNC:3363 ERLIN1 gene ERLIN1 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Spastic paraplegia 62, 615681 24482476 False 2 20;60;20 9.4 False ENSG00000107566 ENSG00000107566 HGNC:16947 EWSR1 gene EWSR1 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 29170628;22454397 False 2 0;100;0 9.4 False ENSG00000182944 ENSG00000182944 HGNC:3508 FARS2 gene FARS2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 False 2 25;50;25 9.4 False ENSG00000145982 ENSG00000145982 HGNC:21062 FOXG1 gene FOXG1 Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology Rett Syndrome, congenital variant, 613454;Dystonia 27029630;29086067 False 2 0;100;0 9.4 False ENSG00000176165 ENSG00000176165 HGNC:3811 GAD1 gene GAD1 NHS GMS;Yorkshire and North East GLH;Expert Review Amber;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 15571623, 28454995 False 2 0;100;0 9.4 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Expert Review Amber;Expert Review Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 26915362, 20886637 False 2 100;0;0 9.4 False ENSG00000054983 ENSG00000054983 HGNC:4115 GCDH gene GCDH Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Glutaricaciduria, type I, OMIM:231670 23884036;26316201 False 2 50;50;0 9.4 False ENSG00000105607 ENSG00000105607 HGNC:4189 GIGYF2 gene GIGYF2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders 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 9.4 False ENSG00000204120 ENSG00000204120 HGNC:11960 GJC2 gene GJC2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 44, autosomal recessive , OMIM:613206;Leukodystrophy, hypomyelinating, 2, OMIM:608804 19056803;22833003;31431325;37915394 False 2 60;40;0 9.4 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 Expert Review Amber;Expert Review Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type III, 230650 1909089;1907800;8198123 False 2 100;0;0 9.4 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLT8D1 gene GLT8D1 Expert Review Amber;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial amyotrophic lateral sclerosis, MONDO:0005144 30811981;35525134;33581933;31653410;33714647;34746377 False 2 33;67;0 9.4 False ENSG00000016864 ENSG00000016864 HGNC:24870 HACE1 gene HACE1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal seizure;Spastic paraplegia and psychomotor retardation with or without seizures, 616756;psychomotor retardation;Spastic paraplegia 26424145;26437029;29423242;31321300;33813722 False 2 25;50;25 9.4 False ENSG00000085382 ENSG00000085382 HGNC:21033 HNRNPA2B1 gene HNRNPA2B1 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders 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 9.4 False ENSG00000122566 ENSG00000122566 HGNC:5033 HSPD1 gene HSPD1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, OMIM:605280 10677329;11898127;17420924 False 2 0;100;0 9.4 False ENSG00000144381 ENSG00000144381 HGNC:5261 IBA57 gene IBA57 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 30258207;25609768 False 2 25;50;25 9.4 False ENSG00000181873 ENSG00000181873 HGNC:27302 JAM2 gene JAM2 Expert Review Amber;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 31851307;32142645 False 2 100;0;0 9.4 False ENSG00000154721 ENSG00000154721 HGNC:14686 JAM2 gene JAM2 Expert Review Amber;Literature Adult-onset neurological disorders 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 9.4 False ENSG00000154721 ENSG00000154721 HGNC:14686 KCNQ3 gene KCNQ3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201;Benign neonatal seizures 2, 121201 False 2 0;100;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000184156 ENSG00000184156 HGNC:6297 KDM5C gene KDM5C Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 10982473;15586325;18697827;19826449;26919706;32279304 False 2 33;50;17 9.4 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 27005418;29667355;31630374 False 2 25;50;25 9.4 False ENSG00000134313 ENSG00000134313 HGNC:29508 L1CAM gene L1CAM Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females CRASH syndrome, OMIM:303350;MASA syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000 7920659;7920660;7562969 False 2 25;50;25 9.4 False ENSG00000198910 ENSG00000198910 HGNC:6470 LNPK gene LNPK Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum False 2 0;100;0 9.4 False ENSG00000144320 ENSG00000144320 HGNC:21610 LYST gene LYST Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Chediak-Higashi syndrome, 214500;Spastic paraplegia 24521565;26307451;25519961;25519960 False 2 25;75;0 9.4 False ENSG00000143669 ENSG00000143669 HGNC:1968 MARS2 gene MARS2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, 611390;Spastic ataxia 3, autosomal recessive Bayat (2012), 22448145 False 2 50;50;0 9.4 False ENSG00000247626 ENSG00000247626 HGNC:25133 MARS2 gene MARS2 Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, OMIM:611390 22448145;16672289 False 2 25;25;50 9.4 False ENSG00000247626 ENSG00000247626 HGNC:25133 MATR3 gene MATR3 NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 25771394;26493020;28029397 False 2 0;100;0 9.4 False ENSG00000015479 ENSG00000015479 HGNC:6912 MORC2 gene MORC2 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 False 2 33;33;33 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133422 ENSG00000133422 HGNC:23573 MTPAP gene MTPAP Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4;?Spastic ataxia 4, autosomal recessive, 613672;Spastic ataxia 4, autosomal recessive 20970105;27391121 False 2 25;75;0 9.4 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTPAP gene MTPAP Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 False 2 0;100;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107951 ENSG00000107951 HGNC:25532 NKX6-2 gene NKX6-2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 28575651;15601927;29388673 False 2 25;50;25 9.4 False ENSG00000148826 ENSG00000148826 HGNC:19321 NR4A2 gene NR4A2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders 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 9.4 False ENSG00000153234 ENSG00000153234 HGNC:7981 NT5C2 gene NT5C2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 19415352;24482476;28327087;28884889;29123918;32153630 False 2 40;40;20 9.4 False ENSG00000076685 ENSG00000076685 HGNC:8022 PDE2A gene PDE2A Expert Review Amber;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 False 2 50;50;0 9.4 False ENSG00000186642 ENSG00000186642 HGNC:8777 PEX2 gene PEX2 Expert Review Amber;Expert Review Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5B, 614867 23430938;7931872;21392394 False 2 100;0;0 9.4 False ENSG00000164751 ENSG00000164751 HGNC:9717 PLP1 gene PLP1 Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology Pelizaeus-Merzbacher disease, 312080;Spastic paraplegia 2, X-linked, 312920;Dystonia 30046645;11093273 False 2 0;100;0 9.4 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPT1 gene PNPT1 Expert Review Amber;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 25, OMIM:608703 35411967;39924761 False 2 100;0;0 9.4 False ENSG00000138035 ENSG00000138035 HGNC:23166 PRKRA gene PRKRA Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRPH gene PRPH NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 25299611;15446584;15322088 False 2 0;100;0 9.4 False ENSG00000135406 ENSG00000135406 HGNC:9461 PRPS1 gene PRPS1 Expert Review Amber;Literature Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) cerebellar ataxia, MONDO:0000437 33898739;28967191;25491489 False 2 0;100;0 9.4 False ENSG00000147224 ENSG00000147224 HGNC:9462 PTS gene PTS Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology Hyperphenylalaninemia, BH4-deficient, A, 261640;Dystonia 26919687 False 2 0;100;0 9.4 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;Dystonia 19491146;26919687;10677304 False 2 0;100;0 9.4 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB3GAP2 gene RAB3GAP2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 24482476;32740904 False 2 25;25;50 9.4 False ENSG00000118873 ENSG00000118873 HGNC:17168 REEP2 gene REEP2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 72, autosomal dominant, 615625;?Spastic paraplegia 72, autosomal dominant,615625;?Spastic paraplegia 72, autosomal recessive, 615625 24388663;24482476;28491902;33526816 False 2 40;40;20 9.4 False ENSG00000132563 ENSG00000132563 HGNC:17975 RORA gene RORA Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060;intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745 29656859 False 2 50;25;25 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000069667 ENSG00000069667 HGNC:10258 SAR1B gene SAR1B Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700;Chylomicron retention disease 246700 False 2 33;33;33 9.4 False ENSG00000152700 ENSG00000152700 HGNC:10535 SCYL1 gene SCYL1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719;acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 False 2 33;33;33 9.4 False ENSG00000142186 ENSG00000142186 HGNC:14372 SERAC1 gene SERAC1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 29205472;22683713;16527507;28482397;28778788;27186703;27604308 False 2 25;50;25 9.4 False ENSG00000122335 ENSG00000122335 HGNC:21061 SIGMAR1 gene SIGMAR1 Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373 26088964;26078401;21031579;26088963;21842496;27821430 False 2 50;25;25 9.4 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC16A2 gene SLC16A2 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 14661163;19194886;20713192;22805248;23419639;24170966;25755011;25900139;28742507;31410843 False 2 25;50;25 9.4 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A4 gene SLC1A4 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657 29989513;27193218;26138499;26041762;25930971 False 2 25;50;25 9.4 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC30A10 gene SLC30A10 Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22926781;22341972;22934317;30272946;22341971;25778823 False 2 50;25;25 9.4 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC9A1 gene SLC9A1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Lichtenstein-Knorr syndrome OMIM:616291;Lichtenstein-Knorr syndrome MONDO:0014572 25205112;30018422;25760855 False 2 25;50;25 9.4 False ENSG00000090020 ENSG00000090020 HGNC:11071 SNCB gene SNCB Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders Neurology Unknown Dementia, Lewy body, OMIM:127750 15365127;21045828 False 2 0;100;0 9.4 False ENSG00000074317 ENSG00000074317 HGNC:11140 SORL1 gene SORL1 Expert Review Amber;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer's Disease 28537274;22472873;28595629;32587946 False 2 0;100;0 9.4 False ENSG00000137642 ENSG00000137642 HGNC:11185 SPART gene SPART Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900;Spastic paraplegia 20 12134148;18413476;20301556;20437587;27112432;28679690 False 2 25;50;25 9.4 False ENSG00000133104 ENSG00000133104 HGNC:18514 TAF1 gene TAF1 London North GLH;NHS GMS;South West GLH;Expert Review Amber Adult-onset neurological disorders 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 26637982;23184149;17668393;17273961;26769797;2368812;20301662;26879577;http://www.ncbi.nlm.nih.gov/books/NBK1155/;12928496 False 2 33;67;0 9.4 False Other - please provide details in the comments ENSG00000147133 ENSG00000147133 HGNC:11535 TAF1 gene TAF1 Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000147133 ENSG00000147133 HGNC:11535 TBC1D23 gene TBC1D23 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 11 OMIM:617695;pontocerebellar hypoplasia, type 11 MONDO:0054669 False 2 33;33;33 9.4 False ENSG00000036054 ENSG00000036054 HGNC:25622 TECPR2 gene TECPR2 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031;Spastic paraplegia 49, autosomal recessive,615031, AR 23176824;26542466 False 2 25;75;0 9.4 False ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 23479643;27492651;27601211;28124177;29971521;30467354;33767317 False 2 60;20;20 9.4 False ENSG00000114354 ENSG00000114354 HGNC:11758 TMEM106B gene TMEM106B Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;30643851;32595021 False 2 33;67;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TRMT5 gene TRMT5 Expert Review Amber;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 26189817;29021354 False 2 0;100;0 9.4 False ENSG00000126814 ENSG00000126814 HGNC:23141 TUBB4A gene TUBB4A Expert Review Amber;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False Other ENSG00000104833 ENSG00000104833 HGNC:20774 UCHL1 gene UCHL1 Expert Review Amber;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {?Parkinson disease 5, susceptibility to}, OMIM:613643;Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340;Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 28007905;23359680;29735986;10048490;35986737 False 2 0;100;0 9.4 False ENSG00000154277 ENSG00000154277 HGNC:12513 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 9.4 False ENSG00000010256 ENSG00000010256 HGNC:12585 VAMP1 gene VAMP1 Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 22958904;27957547 False 2 25;50;25 9.4 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148;Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 False 2 0;67;33 9.4 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP2 gene VAMP2 Expert Review Amber;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760 30929742 False 2 50;50;0 9.4 False ENSG00000220205 ENSG00000220205 HGNC:12643 VPS13C gene VPS13C NHS GMS;Yorkshire and North East GLH;Expert Review Amber Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, OMIM:616840 26942284;28137300;28862745 False 2 0;100;0 9.4 False ENSG00000129003 ENSG00000129003 HGNC:23594 VPS37A gene VPS37A Expert Review Amber;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive;Spastic paraplegia 53, autosomal recessive, 614898, AR Zivony-Elboum et al. (2012);22717650 False 2 25;25;50 9.4 False ENSG00000155975 ENSG00000155975 HGNC:24928 VPS41 gene VPS41 Expert Review Amber;NHS GMS Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Generalised Neurodevelopmental disorder;Ataxia;Dystonia 32808683;33764426;33851776 False 2 50;50;0 9.4 False ENSG00000006715 ENSG00000006715 HGNC:12713 VPS41 gene VPS41 Expert Review Amber;NHS GMS Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Generalised Neurodevelopmental disorder;Ataxia;Dystonia 32808683;33764426;33851776 False 2 50;50;0 9.4 False ENSG00000006715 ENSG00000006715 HGNC:12713 VRK1 gene VRK1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 1A, 607596 False 2 0;100;0 9.4 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR45B gene WDR45B Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 21937992;28503735 False 2 25;50;25 9.4 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR48 gene WDR48 NHS GMS;Yorkshire and North East GLH;Expert Review Amber;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia Novarino et al. (2014);24482476;24482476 False 2 0;100;0 9.4 False ENSG00000114742 ENSG00000114742 HGNC:30914 XRCC1 gene XRCC1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 28002403;29472272 False 2 0;67;33 9.4 False ENSG00000073050 ENSG00000073050 HGNC:12828 YY1 gene YY1 Expert Review Amber;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome, OMIM:617557 28575647 False 2 0;100;0 9.4 False ENSG00000100811 ENSG00000100811 HGNC:12856 ATXN1_CAG str ATXN1 Expert Review Amber;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 2 100;0;0 9.4 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 neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 2 100;0;0 9.4 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 neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 2 0;0;100 9.4 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FGF14_TTC str FGF14 Expert Review Amber Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 36516086;36493768;37267898 False 2 0;100;0 9.4 False ENSG00000102466 ENSG00000102466 HGNC:3671 13 102161576 102161726 TTC 249 300 FXN_GAA str FXN NHS GMS;Expert Review Amber;Yorkshire and North East GLH;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 2 0;0;100 9.4 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 neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 2 100;0;0 9.4 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43