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;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 11810273;27084228;11739809;26049658;23664929 False 3 100;0;0 1.316 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia;Intellectual disability 34587489 False 3 100;0;0 1.316 False ENSG00000204427 ENSG00000204427 HGNC:13921 ADAR gene ADAR Expert Review;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 25243380 False 3 100;0;0 1.316 False ENSG00000160710 ENSG00000160710 HGNC:225 AFG3L2 gene AFG3L2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive OMIM:614487;spastic ataxia 5 MONDO:0013776;Spinocerebellar ataxia 28 OMIM:610246;spinocerebellar ataxia type 28 MONDO:0012450 False 3 100;0;0 1.316 True ENSG00000141385 ENSG00000141385 HGNC:315 AIMP1 gene AIMP1 Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 21092922 False 3 100;0;0 1.316 True ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH18A1 gene ALDH18A1 Expert Review Green;Literature;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9A, autosomal dominant;Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3;ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT;SPG9 False 3 0;0;0 1.316 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALS2 gene ALS2 Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Primary lateral sclerosis, juvenile, OMIM:606353;Spastic paralysis, infantile onset ascending, OMIM:607225 12145748 False 3 100;0;0 1.316 True ENSG00000003393 ENSG00000003393 HGNC:443 AP4B1 gene AP4B1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 Abou Jamra et al. (2011) i False 3 100;0;0 1.316 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401 Moreno-De-Luca et al. (2011) False 3 100;0;0 1.316 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive Verkerk et al. (2009) False 3 100;0;0 1.316 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive;developmental delay;seizures Abou Jamra et al. (2011) False 3 0;0;0 1.316 True ENSG00000100478 ENSG00000100478 HGNC:575 ARG1 gene ARG1 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 26310552;23859858;2365823;1463019 False 3 0;0;0 1.316 False ENSG00000118520 ENSG00000118520 HGNC:663 ATL1 gene ATL1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 3A, autosomal dominant, ;Spastic Paraplegia, Dominant ;Spastic paraplegia 3A, autosomal dominant 11685207;35925862 False 3 100;0;0 1.316 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATP13A2 gene ATP13A2 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia 28137957;27217339 False 3 0;0;100 1.316 False ENSG00000159363 ENSG00000159363 HGNC:30213 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive Boukhris et al. (2013) False 3 100;0;0 1.316 True ENSG00000135454 ENSG00000135454 HGNC:4117 BSCL2 gene BSCL2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver spastic paraplegia syndrome, OMIM:270685 Windpassinger et al. (2004) False 3 100;0;0 1.316 True ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 Shimazaki et al. (2012) False 3 100;0;0 1.316 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23269600;21981780;29295770;31087512 False 3 100;0;0 1.316 True ENSG00000131943 ENSG00000131943 HGNC:25443 CAPN1 gene CAPN1 Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 76 autosomal recessive 616907" False 3 50;50;0 1.316 True ENSG00000014216 ENSG00000014216 HGNC:1476 CYP27A1 gene CYP27A1 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;progressive lower extremity spasticity,often disproportionate to any degree of weakness 25862734;26874936;28623566;27455001;29321515 False 3 0;100;0 1.316 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive Tesson et al. (2012) False 3 0;0;0 1.316 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive , OMIM:270800 19439420;18252231;19187859;29126212 False 3 100;0;0 1.316 True ENSG00000172817 ENSG00000172817 HGNC:2652 DDHD1 gene DDHD1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive Tesson et al. (2012) False 3 100;0;0 1.316 True ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive Schuurs-Hoeijmakers et al. (2012) False 3 100;0;0 1.316 True ENSG00000085788 ENSG00000085788 HGNC:29106 ENTPD1 gene ENTPD1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 24482476;29691679;30652007 False 3 50;0;50 1.316 True ENSG00000138185 ENSG00000138185 HGNC:3363 ERLIN1 gene ERLIN1 Expert Review Green;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Spastic paraplegia 62, 615681 24482476 False 3 100;0;0 1.316 False ENSG00000107566 ENSG00000107566 HGNC:16947 ERLIN2 gene ERLIN2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 18, autosomal recessive, 611225;Spastic paraplegia, autosomal dominant;hereditary spastic paraplegia;neurodegeneration 27824013;25977983;23897027;23109145;23109142;23085305;21796390;21330303;22554690;29528531;28832565 False 3 0;0;0 1.316 True ENSG00000147475 ENSG00000147475 HGNC:1356 FA2H gene FA2H Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive Edvardson et al. (2008) False 3 100;0;0 1.316 True ENSG00000103089 ENSG00000103089 HGNC:21197 FARS2 gene FARS2 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 30250868;26553276;29126765;25851414 False 3 100;0;0 1.316 False ENSG00000145982 ENSG00000145982 HGNC:21062 GBA2 gene GBA2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 100;0;0 1.316 True ENSG00000070610 ENSG00000070610 HGNC:18986 HACE1 gene HACE1 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia;psychomotor retardation;seizure;Spastic paraplegia and psychomotor retardation with or without seizures, 616756 26424145;26437029;29423242;31321300;33813722 False 3 0;100;0 1.316 False ENSG00000085382 ENSG00000085382 HGNC:21033 HIKESHI gene HIKESHI Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, OMIM:616881 26545878;28000699 False 3 100;0;0 1.316 False ENSG00000149196 ENSG00000149196 HGNC:26938 HSPD1 gene HSPD1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) 10677329;11898127;17420924;18571143;27405012 False 3 100;0;0 1.316 True ENSG00000144381 ENSG00000144381 HGNC:5261 KDM5C gene KDM5C Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 0;50;50 1.316 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Green;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 27005418;29667355;31630374;33763417 False 3 100;0;0 1.316 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF1A gene KIF1A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.316 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 0;100;0 1.316 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant Reid et al. (2002) False 3 100;0;0 1.316 True ENSG00000155980 ENSG00000155980 HGNC:6323 L1CAM gene L1CAM Expert list;Expert Review Green;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 PMID: 7920659 False 3 100;0;0 1.316 True ENSG00000198910 ENSG00000198910 HGNC:6470 MAG gene MAG Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 0;50;50 1.316 False ENSG00000105695 ENSG00000105695 HGNC:6783 NIPA1 gene NIPA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6, autosomal dominant ;Spasticparaplegia6,autosomaldominant,600363 Rainier et al. (2003) False 3 100;0;0 1.316 True ENSG00000170113 ENSG00000170113 HGNC:17043 NKX6-2 gene NKX6-2 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 28575651; 15601927 False 3 100;0;0 1.316 False ENSG00000148826 ENSG00000148826 HGNC:19321 NT5C2 gene NT5C2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 24482476;28884889;28327087;29123918 False 3 0;100;0 1.316 True ENSG00000076685 ENSG00000076685 HGNC:8022 OPA3 gene OPA3 Expert Review Green;Literature;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome 25201222; 11668429; 24944951; 25657044; 20301646 False 3 100;0;0 1.316 False ENSG00000125741 ENSG00000125741 HGNC:8142 PCYT2 gene PCYT2 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex hereditary spastic paraplegia;Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 100;0;0 1.316 False ENSG00000185813 ENSG00000185813 HGNC:8756 PLP1 gene PLP1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked Saugier-Veber et al (1994) False 3 100;0;0 1.316 True ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39, autosomal recessive Rainier et al. (2008) False 3 100;0;0 1.316 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 25655951;21855841 False 3 100;0;0 1.316 False ENSG00000148606 ENSG00000148606 HGNC:30074 REEP1 gene REEP1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 31, autosomal dominant Zuchner et al. (2006) False 3 100;0;0 1.316 True ENSG00000068615 ENSG00000068615 HGNC:25786 REEP2 gene REEP2 Expert Review Green;Literature;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 72, autosomal recessive, 615625;?Spastic paraplegia 72, autosomal dominant,615625 24388663;24482476;28491902;33526816 False 3 0;100;0 1.316 False ENSG00000132563 ENSG00000132563 HGNC:17975 RNASEH2B gene RNASEH2B Expert Review Green;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 30223285;25243380;29691679;28762473 False 3 100;0;0 1.316 False Other ENSG00000136104 ENSG00000136104 HGNC:25671 RTN2 gene RTN2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 12, autosomal dominant, OMIM:604805;distal hereditary motor neuropathy, MONDO:0018894;Lower limb spasticity, HP:0002061 22232211;38527963 False 3 100;0;0 1.316 True ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type False 3 100;0;0 1.316 True ENSG00000151835 ENSG00000151835 HGNC:10519 SERAC1 gene SERAC1 Expert Review Green;Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 29205472;22683713;16527507;28482397;28778788;27186703;27604308 False 3 100;0;0 1.316 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC16A2 gene SLC16A2 Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 Friesema et al. (2003) False 3 100;0;0 1.316 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A4 gene SLC1A4 Expert Review;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 29989513;27193218;26138499;26041762;25930971 False 3 100;0;0 1.316 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A46 gene SLC25A46 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neuropathy, hereditary motor and sensory, type VIB 616505" 26168012; 28369803 False 3 50;50;0 1.316 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay;seizure;paroxysmal choreoathetosis;spastic paraplegia;autosomal dominant, complicated hereditary spastic paraplegia (HSP) 11136715;21832227;18606970;27725288 False 3 0;0;100 1.316 False ENSG00000117394 ENSG00000117394 HGNC:11005 SPART gene SPART Expert list;Expert Review Green;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900;Spastic paraplegia 20 12134148;18413476;20301556;20437587;27112432;28679690 False 3 100;0;0 1.316 True ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 26094131;23897027;10610178;10891911;11039577;34935948;39731306 False 3 100;0;0 1.316 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive Stevanin et al. (2007) False 3 100;0;0 1.316 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive Simpson et al. (2003) False 3 100;0;0 1.316 True ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.316 True ENSG00000197912 ENSG00000197912 HGNC:11237 TFG gene TFG Expert list;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 23479643;27492651;27601211;28124177;29971521;30467354;33767317 False 3 100;0;0 1.316 True ENSG00000114354 ENSG00000114354 HGNC:11758 TUBB4A gene TUBB4A Expert Review;Expert Review Green Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Dystonia 4, torsion, autosomal dominant 128101;Leukodystrophy, hypomyelinating, 6 612438;ataxia" False 3 0;0;0 1.316 False ENSG00000104833 ENSG00000104833 HGNC:20774 UBAP1 gene UBAP1 Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia 30929741 False 3 100;0;0 1.316 False ENSG00000165006 ENSG00000165006 HGNC:12461 WASHC5 gene WASHC5 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 8, autosomal dominant, OMIM:603563 17160902;20301727 False 3 100;0;0 1.316 True ENSG00000164961 ENSG00000164961 HGNC:28984 WDR45B gene WDR45B Expert Review Green;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 21937992; 28503735 False 3 100;0;0 1.316 False ENSG00000141580 ENSG00000141580 HGNC:25072 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 Hanein et al. (2008) False 3 100;0;0 1.316 True ENSG00000072121 ENSG00000072121 HGNC:20761 CDK16 gene CDK16 Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability and spastic paraplegia 26350204;25644381 False 2 0;100;0 1.316 False ENSG00000102225 ENSG00000102225 HGNC:8749 DARS gene DARS Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain stem and spinal cord Hypomyelination;leg spasticity;Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 23643384;25527264 False 2 0;100;0 1.316 False ENSG00000115866 ENSG00000115866 HGNC:2678 GCH1 gene GCH1 Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Spastic paraplegia;progressive spastic paraplegia;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 24509643;21935284 False 2 50;50;0 1.316 False ENSG00000131979 ENSG00000131979 HGNC:4193 IBA57 gene IBA57 Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 25609768;30258207 False 2 0;50;50 1.316 False ENSG00000181873 ENSG00000181873 HGNC:27302 LYST gene LYST Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Chediak-Higashi syndrome, 214500 24521565;26307451;25519960;25519961 False 2 0;100;0 1.316 False ENSG00000143669 ENSG00000143669 HGNC:1968 MARS2 gene MARS2 Expert Review Amber;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Spastic ataxia 3, autosomal recessive False 2 67;33;0 1.316 True ENSG00000247626 ENSG00000247626 HGNC:25133 MTPAP gene MTPAP Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive False 2 0;67;33 1.316 True ENSG00000107951 ENSG00000107951 HGNC:25532 POLR3K gene POLR3K Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 1.316 False ENSG00000161980 ENSG00000161980 HGNC:14121 SARS2 gene SARS2 Expert Review Amber;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845;Progressive Spastic Paresis 21255763;24034276;27279129 False 2 0;100;0 1.316 False ENSG00000104835 ENSG00000104835 HGNC:17697 SLC33A1 gene SLC33A1 Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 42, autosomal dominant, Lin et al. (2008) False 2 50;50;0 1.316 True ENSG00000169359 ENSG00000169359 HGNC:95 AMPD2 gene AMPD2 Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypolplasia (biallelic);Hereditary Spastic Paraplegia? Novarino et al. (2014) False 1 0;50;50 1.316 True ENSG00000116337 ENSG00000116337 HGNC:469 AP5Z1 gene AP5Z1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 Slabicki et al. (2010) i False 1 0;67;33 1.316 True ENSG00000242802 ENSG00000242802 HGNC:22197 ARL6IP1 gene ARL6IP1 Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;100;0 1.316 True ENSG00000170540 ENSG00000170540 HGNC:697 ARSI gene ARSI Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;100 1.316 True ENSG00000183876 ENSG00000183876 HGNC:32521 CCT5 gene CCT5 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia False 1 0;0;100 1.316 True ENSG00000150753 ENSG00000150753 HGNC:1618 DSTYK gene DSTYK Other Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, 270750 28157540 False 1 0;100;0 1.316 False ENSG00000133059 ENSG00000133059 HGNC:29043 GAD1 gene GAD1 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Cerebralpalsy,spasticquadriplegic,1,603513 False 1 0;0;100 1.316 True ENSG00000128683 ENSG00000128683 HGNC:4092 GJC2 gene GJC2 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive Orthmann-Murphy et al. (2009) False 1 0;67;33 1.316 True ENSG00000198835 ENSG00000198835 HGNC:17494 KLC4 gene KLC4 Expert Review Red;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;0;100 1.316 False ENSG00000137171 ENSG00000137171 HGNC:21624 MARS gene MARS Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 100;0;0 1.316 True ENSG00000166986 ENSG00000166986 HGNC:6898 PCDH12 gene PCDH12 Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;microcephaly;epilepsy;perithalamic hyperechogenicity;periventricular hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities 27164683 False 1 0;0;100 1.316 False ENSG00000113555 ENSG00000113555 HGNC:8657 PGAP1 gene PGAP1 Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;100 1.316 True ENSG00000197121 ENSG00000197121 HGNC:25712 PSEN1 gene PSEN1 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Alzheimer disease, type 3, with spastic paraparesis and apraxia;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques False 1 50;50;0 1.316 True ENSG00000080815 ENSG00000080815 HGNC:9508 RAB3GAP2 gene RAB3GAP2 Expert Review Red;Literature Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 24482476 False 1 0;0;100 1.316 False ENSG00000118873 ENSG00000118873 HGNC:17168 TECPR2 gene TECPR2 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031 23176824;26542466 False 1 0;100;0 1.316 True ENSG00000196663 ENSG00000196663 HGNC:19957 USP8 gene USP8 Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;0 1.316 True ENSG00000138592 ENSG00000138592 HGNC:12631 VAMP1 gene VAMP1 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 22958904 False 1 0;100;0 1.316 True ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive Zivony-Elboum et al. (2012) False 1 0;0;0 1.316 True ENSG00000155975 ENSG00000155975 HGNC:24928 WDR48 gene WDR48 Expert list;Expert Review Red Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;100 1.316 True ENSG00000114742 ENSG00000114742 HGNC:30914 ZEB2 gene ZEB2 Expert Review Red;UKGTN Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders False 1 0;0;100 1.316 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFYVE27 gene ZFYVE27 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 33, autosomal dominant Mannan AU (2006) False 1 50;0;50 1.316 True ENSG00000155256 ENSG00000155256 HGNC:26559 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 0;0;0 1.316 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 1.316 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 False 3 0;0;0 1.316 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 0;0;0 1.316 True ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 0;0;0 1.316 True ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 0;0;0 1.316 True ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 FXN_GAA str FXN Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 0;0;0 1.316 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 HTT_CAG str HTT Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 False 3 100;0;0 1.316 True ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 36 40 PPP2R2B_CAG str PPP2R2B Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 0;0;0 1.316 True ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP Expert Review Green;NHS GMS;Expert Review Hereditary spastic paraplegia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 False 3 0;0;0 1.316 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49