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 ABCD1 gene ABCD1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100;Adrenal failure;VLCFA accumulation;Spastic paraparesis 61263;17372139 False 3 67;33;0 6.9 False ENSG00000101986 ENSG00000101986 HGNC:61 ADAR gene ADAR Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 25243380;25604658 False 3 33;67;0 6.9 False ENSG00000160710 ENSG00000160710 HGNC:225 ALDH18A1 gene ALDH18A1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9B, autosomal recessive 616586;SPG9;ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT;Cutis laxa, autosomal dominant 3 616603;Spastic paraplegia 9A, autosomal dominant 601162;Cutis laxa, autosomal recessive, type IIIA 219150 26026163;26297558 False 3 67;33;0 6.9 False ENSG00000059573 ENSG00000059573 HGNC:9722 AP5Z1 gene AP5Z1 Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive, 613647;Spastic paraplegia 48, autosomal recessive 27606357;20613862;24833714 False 3 75;25;0 6.9 False ENSG00000242802 ENSG00000242802 HGNC:22197 ATL1 gene ATL1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 3A, 182600 autosomal dominant;Spastic Paraplegia, Dominant;Neuropathy, hereditary sensory, type ID, 613708 11685207;15517445;35925862 False 3 67;33;0 6.9 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATP13A2 gene ATP13A2 Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, 606693 AR;Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia 28137957;27217339;27165006 False 3 50;50;0 6.9 False ENSG00000159363 ENSG00000159363 HGNC:30213 B4GALNT1 gene B4GALNT1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195 23746551;24283893 False 3 67;33;0 6.9 False ENSG00000135454 ENSG00000135454 HGNC:4117 BICD2 gene BICD2 Expert list;Expert Review Green;London North GLH;NHS GMS;South West GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 23664120;25497877;30536747;24482476 False 3 88;12;0 6.9 False ENSG00000185963 ENSG00000185963 HGNC:17208 BSCL2 gene BSCL2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver spastic paraplegia syndrome, OMIM:270685;Neuropathy, distal hereditary motor, type VC, OMIM:619112 14981520;17387721 False 3 33;67;0 6.9 False ENSG00000168000 ENSG00000168000 HGNC:15832 C19orf12 gene C19orf12 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23857908;26539891;23269600;21981780;29295770;31087512 False 3 33;67;0 6.9 False ENSG00000131943 ENSG00000131943 HGNC:25443 CAPN1 gene CAPN1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76 autosomal recessive, 616907 27153400;29678961;28566166 False 3 67;33;0 6.9 False ENSG00000014216 ENSG00000014216 HGNC:1476 COQ4 gene COQ4 Expert Review Green;Literature;NHS GMS Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 36047608 False 3 100;0;0 6.9 False ENSG00000167113 ENSG00000167113 HGNC:19693 CPT1C gene CPT1C Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 73, autosomal dominant, OMIM:616282 25751282;30564185 False 3 33;67;0 6.9 False ENSG00000169169 ENSG00000169169 HGNC:18540 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;progressive lower extremity spasticity,often disproportionate to any degree of weakness False 3 67;33;0 6.9 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, 270800 18252231;19187859;29126212 False 3 67;33;0 6.9 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS gene DARS Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal leg spasticity;Brain stem and spinal cord Hypomyelination;Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 23643384;25527264 False 3 50;50;0 6.9 False ENSG00000115866 ENSG00000115866 HGNC:2678 DDHD1 gene DDHD1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive, 609340 23176821;24989667;26944165 False 3 67;33;0 6.9 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, 615033 23176823;23486545;25417924 False 3 67;33;0 6.9 False ENSG00000085788 ENSG00000085788 HGNC:29106 ERLIN2 gene ERLIN2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia, autosomal dominant;neurodegeneration.;Spastic paraplegia 18, autosomal recessive, 611225;hereditary spastic paraplegia 21330303;21796390;29691679;29528531 False 3 67;33;0 6.9 False ENSG00000147475 ENSG00000147475 HGNC:1356 FA2H gene FA2H Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 19068277;20853438 False 3 67;33;0 6.9 False ENSG00000103089 ENSG00000103089 HGNC:21197 FBXO7 gene FBXO7 Expert list;Expert Review Green Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, OMIM:260300 19038853;18513678;26882974;34144229 False 3 100;0;0 6.9 False ENSG00000100225 ENSG00000100225 HGNC:13586 FXN gene FXN Expert Review;Expert Review Green Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 8596916;9150176;9737785;21830088 False 3 100;0;0 6.9 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert list;Expert Review Green Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 9272171;11971051;22959700;26396125;26915362;28547031;31185936;32064984 False 3 100;0;0 6.9 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBA2 gene GBA2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916;24337409;24252062 False 3 67;33;0 6.9 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert list;Expert Review Green Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570 10762170;23034915;26194201;33412965;33517539 False 3 100;0;0 6.9 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCH1 gene GCH1 Expert Review Green;London North GLH;NHS GMS;North West GLH;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia;progressive spastic paraplegia;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Spastic paraplegia 24509643;21935284 False 3 60;40;0 6.9 False ENSG00000131979 ENSG00000131979 HGNC:4193 GJA1 gene GJA1 Expert list;Expert Review Green Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia, OMIM:164200;Spastic paraplegia 18660473;22214631;29927410;31023660;33190326;33612672 False 3 100;0;0 6.9 False ENSG00000152661 ENSG00000152661 HGNC:4274 KCNA2 gene KCNA2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia and ataxia 5129488;27543892;28032718 False 3 67;33;0 6.9 False ENSG00000177301 ENSG00000177301 HGNC:6220 KIF1A gene KIF1A Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 30, autosomal dominant, OMIM:610357;Spastic paraplegia 30, autosomal recessive, OMIM:610357;NESCAV syndrome, OMIM:614255 21487076;22258533;28332297;25265257;25585697;26125038;26410750;28970574;31805580;31813911;32737135;32746806;34121983 False 3 67;33;0 6.9 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, 611302;Spastic ataxia 2, autosomal recessive 24319291;24482476;24808017;29544888;31413903 False 3 50;33;17 6.9 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 12355402;16476820 False 3 67;33;0 6.9 False ENSG00000155980 ENSG00000155980 HGNC:6323 NIPA1 gene NIPA1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 15711826;14508710;15643603 False 3 67;33;0 6.9 False ENSG00000170113 ENSG00000170113 HGNC:17043 OPA3 gene OPA3 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD False 3 67;33;0 6.9 False ENSG00000125741 ENSG00000125741 HGNC:8142 PCYT2 gene PCYT2 Expert Review Green;Literature Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 0;0;0 6.9 False ENSG00000185813 ENSG00000185813 HGNC:8756 PLP1 gene PLP1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked recessive, 312920 8012387;11093273;7488049 False 3 67;33;0 6.9 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA6 gene PNPLA6 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39, autosomal recessive, 612020 18313024;24355708;23733235 False 3 67;33;0 6.9 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Autosomal Recessive Ataxia 25655951;21855841;28459997 False 3 33;33;33 6.9 False ENSG00000148606 ENSG00000148606 HGNC:30074 PRNP gene PRNP Expert Review Green;NHS GMS Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gerstmann-Straussler disease, OMIM: 137440;Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 30240140;8250529;34746379;28195350;16227536;19228673;1699173;7902971;11709001;10581485;10953183;1363810;7902972 False 3 100;0;0 6.9 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171867 ENSG00000171867 HGNC:9449 PSEN1 gene PSEN1 Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques;Alzheimer disease, type 3, with spastic paraparesis and apraxia;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 22517194 False 3 50;25;25 6.9 False ENSG00000080815 ENSG00000080815 HGNC:9508 REEP1 gene REEP1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 31, autosomal dominant, 610250 16826527;18321925 False 3 67;33;0 6.9 False ENSG00000068615 ENSG00000068615 HGNC:25786 RTN2 gene RTN2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 12, autosomal dominant, 604805 22232211;24123792;28362824 False 3 67;33;0 6.9 False ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 10655055;20876471 False 3 67;33;0 6.9 False ENSG00000151835 ENSG00000151835 HGNC:10519 SLC25A15 gene SLC25A15 Expert list;Expert Review Green Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 11355015;16376511;18978333;22465082;28592010;33314525 False 3 100;0;0 6.9 False ENSG00000102743 ENSG00000102743 HGNC:10985 SPAST gene SPAST Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 16240363;15248095;34935948 False 3 67;33;0 6.9 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, 604360;Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR;Amyotrophic lateral sclerosis 5, juvenile, 602099, AR 17322883;17717710;18067136;19194956 False 3 67;33;0 6.9 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Mast syndrome, 248900;Spastic Paraplegia, autosomal recessive 14564668;28752238;24451228 False 3 67;33;0 6.9 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586;20186691;22571692 False 3 80;20;0 6.9 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;Literature;NHS GMS Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 18065176;20493457;22656320;31515523;34526651;35150594;36331550 False 3 100;0;0 6.9 False ENSG00000197694 ENSG00000197694 HGNC:11273 TUBB4A gene TUBB4A Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, 128101;ataxia;Leukodystrophy, hypomyelinating, 612438 AD False 3 67;33;0 6.9 False ENSG00000104833 ENSG00000104833 HGNC:20774 UBAP1 gene UBAP1 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia 30929741 False 3 100;0;0 6.9 False ENSG00000165006 ENSG00000165006 HGNC:12461 UCHL1 gene UCHL1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 23359680;28007905;29735986;32656641;35986737 False 3 43;43;14 6.9 False ENSG00000154277 ENSG00000154277 HGNC:12513 WASHC5 gene WASHC5 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 8, autosomal dominant, OMIM:603563 17160902;23455931 False 3 67;33;0 6.9 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZFYVE26 gene ZFYVE26 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 18394578;19805727 False 3 67;33;0 6.9 False ENSG00000072121 ENSG00000072121 HGNC:20761 AFG3L2 gene AFG3L2 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, OMIM:614487 False 2 25;50;25 6.9 False ENSG00000141385 ENSG00000141385 HGNC:315 AIMP1 gene AIMP1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 21092922;30477741;30486714 False 2 25;50;25 6.9 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALS2 gene ALS2 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000003393 ENSG00000003393 HGNC:443 AMPD2 gene AMPD2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000116337 ENSG00000116337 HGNC:469 AP4B1 gene AP4B1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 19559397;24700674;29096665 False 2 20;60;20 6.9 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;seizures;Spastic paraplegia 52, autosomal recessive, 614067 21620353;27444738;25552650 False 2 20;60;20 6.9 False ENSG00000100478 ENSG00000100478 HGNC:575 ARG1 gene ARG1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Progressive spastic tetraplegia;Argininaemia, 207800 2365823;1463019;23859858 False 2 25;50;25 6.9 False ENSG00000118520 ENSG00000118520 HGNC:663 ARL6IP1 gene ARL6IP1 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, 615685 24482476;28471035 False 2 67;33;0 6.9 False ENSG00000170540 ENSG00000170540 HGNC:697 C12orf65 gene C12orf65 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 23188110;24080142;24198383;24284555;24424123;25995486;26380172 False 2 20;60;20 6.9 False ENSG00000130921 ENSG00000130921 HGNC:26784 CHP1 gene CHP1 Expert Review Amber;Literature Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 6.9 False ENSG00000187446 ENSG00000187446 HGNC:17433 CYP2U1 gene CYP2U1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000155016 ENSG00000155016 HGNC:20582 DSTYK gene DSTYK Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000133059 ENSG00000133059 HGNC:29043 ENTPD1 gene ENTPD1 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 24482476;29691679;30652007 False 2 25;50;25 6.9 False ENSG00000138185 ENSG00000138185 HGNC:3363 ERLIN1 gene ERLIN1 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Spastic paraplegia 62, 615681 24482476 False 2 20;60;20 6.9 False ENSG00000107566 ENSG00000107566 HGNC:16947 FARS2 gene FARS2 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 False 2 25;50;25 6.9 False ENSG00000145982 ENSG00000145982 HGNC:21062 GAD1 gene GAD1 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 15571623, 28454995 False 2 0;100;0 6.9 False ENSG00000128683 ENSG00000128683 HGNC:4092 GJC2 gene GJC2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000198835 ENSG00000198835 HGNC:17494 HACE1 gene HACE1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000085382 ENSG00000085382 HGNC:21033 HSPD1 gene HSPD1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, OMIM:605280 10677329;11898127;17420924 False 2 0;100;0 6.9 False ENSG00000144381 ENSG00000144381 HGNC:5261 IBA57 gene IBA57 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 30258207;25609768 False 2 25;50;25 6.9 False ENSG00000181873 ENSG00000181873 HGNC:27302 KDM5C gene KDM5C Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000134313 ENSG00000134313 HGNC:29508 L1CAM gene L1CAM Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000198910 ENSG00000198910 HGNC:6470 LYST gene LYST Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Chediak-Higashi syndrome, 214500;Spastic paraplegia 24521565;26307451;25519961;25519960 False 2 25;75;0 6.9 False ENSG00000143669 ENSG00000143669 HGNC:1968 MARS2 gene MARS2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, 611390;Spastic ataxia 3, autosomal recessive Bayat (2012), 22448145 False 2 50;50;0 6.9 False ENSG00000247626 ENSG00000247626 HGNC:25133 MTPAP gene MTPAP Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000107951 ENSG00000107951 HGNC:25532 NKX6-2 gene NKX6-2 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 28575651;15601927;29388673 False 2 25;50;25 6.9 False ENSG00000148826 ENSG00000148826 HGNC:19321 NT5C2 gene NT5C2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 19415352;24482476;28327087;28884889;29123918;32153630 False 2 40;40;20 6.9 False ENSG00000076685 ENSG00000076685 HGNC:8022 RAB3GAP2 gene RAB3GAP2 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 24482476;32740904 False 2 25;25;50 6.9 False ENSG00000118873 ENSG00000118873 HGNC:17168 REEP2 gene REEP2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000132563 ENSG00000132563 HGNC:17975 SERAC1 gene SERAC1 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC16A2 gene SLC16A2 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A4 gene SLC1A4 Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000115902 ENSG00000115902 HGNC:10942 SPART gene SPART Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900;Spastic paraplegia 20 12134148;18413476;20301556;20437587;27112432;28679690 False 2 25;50;25 6.9 False ENSG00000133104 ENSG00000133104 HGNC:18514 TECPR2 gene TECPR2 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 23479643;27492651;27601211;28124177;29971521;30467354;33767317 False 2 60;20;20 6.9 False ENSG00000114354 ENSG00000114354 HGNC:11758 TRMT5 gene TRMT5 Expert Review Amber;Literature Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 26189817;29021354 False 2 0;100;0 6.9 False ENSG00000126814 ENSG00000126814 HGNC:23141 VAMP1 gene VAMP1 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 22958904;27957547 False 2 25;50;25 6.9 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert Review Amber;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000155975 ENSG00000155975 HGNC:24928 WDR45B gene WDR45B Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia 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 6.9 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR48 gene WDR48 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia Novarino et al. (2014);24482476;24482476 False 2 0;100;0 6.9 False ENSG00000114742 ENSG00000114742 HGNC:30914 ARSI gene ARSI NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;33;67 6.9 False ENSG00000183876 ENSG00000183876 HGNC:32521 CCT5 gene CCT5 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy with Spastic Paraplegia;Neuropathy, hereditary sensory, with spastic paraplegia 16399879 False 1 0;33;67 6.9 False ENSG00000150753 ENSG00000150753 HGNC:1618 CDK16 gene CDK16 Expert Review Red;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability and spastic paraplegia, x-linked 25644381 False 1 0;33;67 6.9 False ENSG00000102225 ENSG00000102225 HGNC:8749 KLC4 gene KLC4 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;33;67 6.9 False ENSG00000137171 ENSG00000137171 HGNC:21624 MAG gene MAG Expert Review Red;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 1 25;75;0 6.9 False ENSG00000105695 ENSG00000105695 HGNC:6783 MARS gene MARS NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;33;67 6.9 False ENSG00000166986 ENSG00000166986 HGNC:6898 PCDH12 gene PCDH12 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;perithalamic hyperechogenicity;midbrain abnormalities;intellectual disability;epilepsy;periventricular hyperechogenicity;hypothalamic abnormalities 27164683;29556033 False 1 0;33;67 6.9 False ENSG00000113555 ENSG00000113555 HGNC:8657 PGAP1 gene PGAP1 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;33;67 6.9 False ENSG00000197121 ENSG00000197121 HGNC:25712 SLC25A46 gene SLC25A46 Expert Review Red;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, 616505 28369803 False 1 0;33;67 6.9 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC33A1 gene SLC33A1 Expert Review Red;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD;Spastic paraplegia 42, autosomal dominant Lin et al. (2008);19061983;25402622 False 1 25;25;50 6.9 False ENSG00000169359 ENSG00000169359 HGNC:95 USP8 gene USP8 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;33;67 6.9 False ENSG00000138592 ENSG00000138592 HGNC:12631 ZEB2 gene ZEB2 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology False 1 0;33;67 6.9 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFYVE27 gene ZFYVE27 NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 33, autosomal dominant Mannan AU (2006);16826525;22554690;29980238 False 1 0;33;67 6.9 False ENSG00000155256 ENSG00000155256 HGNC:26559 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;South West GLH;London North GLH;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 100;0;0 6.9 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 6.9 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 False 3 100;0;0 6.9 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 6.9 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 6.9 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CACNA1A_CAG str CACNA1A NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 6.9 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 FXN_GAA str FXN NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 100;0;0 6.9 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 PPP2R2B_CAG str PPP2R2B NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 100;0;0 6.9 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 False 3 100;0;0 6.9 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49