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;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 23664929;11739809;26049658;27084228;11810273;61263;17372139 False 3 67;33;0 8.48 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia;Intellectual disability 34587489 False 3 100;0;0 8.48 False ENSG00000204427 ENSG00000204427 HGNC:13921 ACBD6 gene ACBD6 Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 21937992;32108178;36457943;37951597 False 3 40;20;40 8.48 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACER3 gene ACER3 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, progressive, early childhood-onset, OMIM:617762 26792856;32816236;34281620 False 3 67;33;0 8.48 False ENSG00000078124 ENSG00000078124 HGNC:16066 ADAR gene ADAR Expert Review;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 25243380;25604658 False 3 67;33;0 8.48 False ENSG00000160710 ENSG00000160710 HGNC:225 AFG3L2 gene AFG3L2 Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology 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 17101804;22022284;27165006 False 3 67;33;0 8.48 False ENSG00000141385 ENSG00000141385 HGNC:315 AIMP1 gene AIMP1 Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 21092922;30477741;30486714 False 3 67;33;0 8.48 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH18A1 gene ALDH18A1 Expert Review Green;Literature;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9B, autosomal recessive, 616586;SPG9;Spastic paraplegia 9A, autosomal dominant, 601162;ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT;Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3 26026163;26297558 False 3 67;33;0 8.48 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 8528251;9829906;16476818;25784589;29071827;29183715;29375833;29704247;30157790;30403285;31273323;31388754;31944864;32930514;34082469;34315315 False 3 100;0;0 8.48 False ENSG00000072210 ENSG00000072210 HGNC:403 ALS2 gene ALS2 Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology 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;15247254;27601211 False 3 67;33;0 8.48 False ENSG00000003393 ENSG00000003393 HGNC:443 AMFR gene AMFR Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 89, autosomal recessive, OMIM:620379 37119330 False 3 100;0;0 8.48 False ENSG00000159461 ENSG00000159461 HGNC:463 AP4B1 gene AP4B1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood 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 3 67;33;0 8.48 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401 20972249;21620353;23472171 False 3 67;33;0 8.48 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 19559397;24700674;29096665 False 3 67;33;0 8.48 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;seizures;Spastic paraplegia 52, autosomal recessive, 614067 21620353;27444738;25552650 False 3 67;33;0 8.48 False ENSG00000100478 ENSG00000100478 HGNC:575 AP5Z1 gene AP5Z1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 24833714;27606357;33543803 False 3 50;50;0 8.48 False ENSG00000242802 ENSG00000242802 HGNC:22197 ARG1 gene ARG1 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 2365823;23859858;1463019;26310552 False 3 67;33;0 8.48 False ENSG00000118520 ENSG00000118520 HGNC:663 ARL6IP1 gene ARL6IP1 Expert list;Expert Review Green;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, OMIM:615685;hereditary spastic paraplegia 61, MONDO:0014304 24482476;31272422;30980493;28471035 False 3 75;25;0 8.48 False ENSG00000170540 ENSG00000170540 HGNC:697 ATL1 gene ATL1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 3A, autosomal dominant, OMIM:182600;hereditary spastic paraplegia 3A, MONDO:0008437 11685207;15517445;18446315;22378671;24473461;25193411;26888483;34808209;35925862;37927245;39003427 False 3 80;20;0 8.48 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATP13A2 gene ATP13A2 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia 28137957;27217339;27165006 False 3 67;33;0 8.48 False ENSG00000159363 ENSG00000159363 HGNC:30213 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195 23746551;24283893 False 3 67;33;0 8.48 False ENSG00000135454 ENSG00000135454 HGNC:4117 BCAS3 gene BCAS3 Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Syndromic neurodevelopmental disorder 34022130 False 3 100;0;0 8.48 False ENSG00000141376 ENSG00000141376 HGNC:14347 BORCS8 gene BORCS8 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 38128568 False 3 100;0;0 8.48 False ENSG00000254901 ENSG00000254901 HGNC:37247 BSCL2 gene BSCL2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood 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 13680364;14981520;17387721 False 3 67;33;0 8.48 False ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 23188110;24424123 False 3 67;33;0 8.48 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 8.48 False ENSG00000131943 ENSG00000131943 HGNC:25443 CAPN1 gene CAPN1 Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76 autosomal recessive, 616907 27153400;29678961;28566166 False 3 50;50;0 8.48 False ENSG00000014216 ENSG00000014216 HGNC:1476 CLDN11 gene CLDN11 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 22, OMIM:619328 33313762 False 3 100;0;0 8.48 False ENSG00000013297 ENSG00000013297 HGNC:8514 CPT1C gene CPT1C Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 73, autosomal dominant, OMIM:616282 25751282;30564185;30911584 False 3 25;50;25 8.48 False ENSG00000169169 ENSG00000169169 HGNC:18540 CTNNB1 gene CTNNB1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 23033978;24614104;25326669;26968164;27915094;34321325 False 3 100;0;0 8.48 False ENSG00000168036 ENSG00000168036 HGNC:2514 CYP27A1 gene CYP27A1 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;progressive lower extremity spasticity,often disproportionate to any degree of weakness 25862734;27455001;26874936;29321515;28623566 False 3 67;33;0 8.48 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 23176821;24337409 False 3 67;33;0 8.48 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, OMIM:270800 19439420;18252231;19187859;29126212 False 3 67;33;0 8.48 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS gene DARS Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 67;33;0 8.48 False ENSG00000115866 ENSG00000115866 HGNC:2678 DDHD1 gene DDHD1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive, 609340 23176821;24989667;26944165 False 3 67;33;0 8.48 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, 615033 23176823;23486545;25417924 False 3 67;33;0 8.48 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDX3X gene DDX3X Expert Review Green;Literature;NHS GMS Childhood 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, Snijders Blok type, OMIM:300958 26235985;29490693;30936465;32852922 False 3 100;0;0 8.48 False ENSG00000215301 ENSG00000215301 HGNC:2745 ELOVL1 gene ELOVL1 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 23689133;29496980;30487246;32123819 False 3 100;0;0 8.48 False ENSG00000066322 ENSG00000066322 HGNC:14418 ENTPD1 gene ENTPD1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 24482476;29691679;30652007 False 3 50;50;0 8.48 False ENSG00000138185 ENSG00000138185 HGNC:3363 ERLIN1 gene ERLIN1 Expert Review Green;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Spastic paraplegia 62, 615681 24482476 False 3 67;33;0 8.48 False ENSG00000107566 ENSG00000107566 HGNC:16947 ERLIN2 gene ERLIN2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia, autosomal dominant;Spastic paraplegia 18, autosomal recessive, 611225;hereditary spastic paraplegia;neurodegeneration 21330303;21796390;29691679;29528531;23109145;22554690;23085305;27824013;29528531;23109142;28832565;21330303;23897027;21796390;25977983 False 3 67;33;0 8.48 False ENSG00000147475 ENSG00000147475 HGNC:1356 EXOSC8 gene EXOSC8 Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081 24989451;38017281;34210538 False 3 100;0;0 8.48 False ENSG00000120699 ENSG00000120699 HGNC:17035 FA2H gene FA2H Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood 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 8.48 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAR1 gene FAR1 Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 3 100;0;0 8.48 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 26553276;30250868;25851414;29126765 False 3 67;33;0 8.48 False ENSG00000145982 ENSG00000145982 HGNC:21062 FICD gene FICD Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 92, autosomal recessive, OMIM:620911 36136088;40062579 False 3 67;33;0 8.48 False ENSG00000198855 ENSG00000198855 HGNC:18416 FLVCR1 gene FLVCR1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 39306721 False 3 100;0;0 8.48 False ENSG00000162769 ENSG00000162769 HGNC:24682 FXN gene FXN Expert Review;Expert Review Green Childhood 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 8.48 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease OMIM:245200 20886637;21070211;26396125;28547031;30089515;31185936 False 3 100;0;0 8.48 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBA2 gene GBA2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916;24337409;24252062 False 3 67;33;0 8.48 False ENSG00000070610 ENSG00000070610 HGNC:18986 GCH1 gene GCH1 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Dystonia;progressive spastic paraplegia;Spastic paraplegia 24509643;21935284 False 3 75;25;0 8.48 False ENSG00000131979 ENSG00000131979 HGNC:4193 GJA1 gene GJA1 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia, OMIM:164200;Spastic paraplegia 18660473;29927410;31023660 False 3 100;0;0 8.48 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLRX5 gene GLRX5 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 24334290;30770271 False 3 100;0;0 8.48 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPT2 gene GPT2 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 27601654;28130718;29226631;29882329;31471722 False 3 100;0;0 8.48 False ENSG00000166123 ENSG00000166123 HGNC:18062 HACE1 gene HACE1 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756;Spastic paraplegia;seizure;psychomotor retardation 26424145;26437029;29423242;31321300;33813722 False 3 67;33;0 8.48 False ENSG00000085382 ENSG00000085382 HGNC:21033 HECTD4 gene HECTD4 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 36401616 False 3 100;0;0 8.48 False ENSG00000173064 ENSG00000173064 HGNC:26611 HIKESHI gene HIKESHI Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, OMIM:616881 26545878;28000699 False 3 100;0;0 8.48 False ENSG00000149196 ENSG00000149196 HGNC:26938 HMBS gene HMBS Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, porphyria-related, OMIM:620711;Encephalopathy, porphyria-related, OMIM:620704 14262853;27558376;34089223 False 3 100;0;0 8.48 False ENSG00000256269 ENSG00000256269 HGNC:4982 HPDL gene HPDL Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613;Spastic paraplegia 83, autosomal recessive, OMIM:619027;Spastic paraplegia 83, autosomal recessive, MONDO:0033614 32707086;33188300;33970200 False 3 100;0;0 8.48 False ENSG00000186603 ENSG00000186603 HGNC:28242 HSPD1 gene HSPD1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;27405012 False 3 40;60;0 8.48 False ENSG00000144381 ENSG00000144381 HGNC:5261 IFIH1 gene IFIH1 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 25243380;31427910;24686847;24995871 False 3 100;0;0 8.48 False ENSG00000115267 ENSG00000115267 HGNC:18873 INPP4A gene INPP4A Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39315527;40748307;40772914 False 3 100;0;0 8.48 False ENSG00000040933 ENSG00000040933 HGNC:6074 KCNA2 gene KCNA2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hereditary spastic paraplegia and ataxia 27543892;28032718 False 3 67;33;0 8.48 False ENSG00000177301 ENSG00000177301 HGNC:6220 KDM5C gene KDM5C Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 3 67;33;0 8.48 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Green;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood 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 3 67;33;0 8.48 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF1A gene KIF1A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood 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 8.48 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 67;33;0 8.48 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant, 604187 12355402;25352184 False 3 67;33;0 8.48 False ENSG00000155980 ENSG00000155980 HGNC:6323 KPNA3 gene KPNA3 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant pure spastic paraplegia, MONDO:0015088 34564892 False 3 100;0;0 8.48 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000102753 ENSG00000102753 HGNC:6396 L1CAM gene L1CAM Expert list;Expert Review Green;London North GLH;NHS GMS;UKGTN;Yorkshire and North East GLH Childhood 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 3 67;33;0 8.48 False ENSG00000198910 ENSG00000198910 HGNC:6470 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 8.48 False ENSG00000168924 ENSG00000168924 HGNC:6556 MAG gene MAG Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 60;40;0 8.48 False ENSG00000105695 ENSG00000105695 HGNC:6783 MAPK8IP3 gene MAPK8IP3 Expert list;Expert Review Green Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 30612693;30945334 False 3 100;0;0 8.48 False ENSG00000138834 ENSG00000138834 HGNC:6884 NDUFA12 gene NDUFA12 Expert Review Green;NHS GMS;PanelApp;South West GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 67;0;33 8.48 False ENSG00000184752 ENSG00000184752 HGNC:23987 NIPA1 gene NIPA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 6, autosomal dominant, 600363 15711826;14508710;15643603 False 3 67;33;0 8.48 False ENSG00000170113 ENSG00000170113 HGNC:17043 NKX6-2 gene NKX6-2 Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 15601927;28575651;29388673 False 3 67;33;0 8.48 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH3 gene NOTCH3 Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39191170 False 3 100;0;0 8.48 False ENSG00000074181 ENSG00000074181 HGNC:7883 NSRP1 gene NSRP1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal NSRP1-associated developmental delay, epilepsy and microcephaly 34385670 False 3 100;0;0 8.48 False ENSG00000126653 ENSG00000126653 HGNC:25305 NT5C2 gene NT5C2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 19415352;24482476;28327087;28884889;29123918;32153630 False 3 67;33;0 8.48 False ENSG00000076685 ENSG00000076685 HGNC:8022 OGDHL gene OGDHL Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363;38031187 False 3 100;0;0 8.48 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA3 gene OPA3 Expert Review Green;Literature;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Costeff syndrome 11668429;24944951;25201222;25657044;20301646 False 3 67;33;0 8.48 False ENSG00000125741 ENSG00000125741 HGNC:8142 PCYT2 gene PCYT2 Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 0;0;0 8.48 False ENSG00000185813 ENSG00000185813 HGNC:8756 PLP1 gene PLP1 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked, 312920 8012387 False 3 67;33;0 8.48 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39, autosomal recessive, 612020 18313024;24355708;23733235 False 3 67;33;0 8.48 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 8.48 False ENSG00000148606 ENSG00000148606 HGNC:30074 PPFIBP1 gene PPFIBP1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;30214071 False 3 100;0;0 8.48 False ENSG00000110841 ENSG00000110841 HGNC:9249 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Literature;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 24482476;32376645;32740904 False 3 75;0;25 8.48 False ENSG00000118873 ENSG00000118873 HGNC:17168 REEP1 gene REEP1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood 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 8.48 False ENSG00000068615 ENSG00000068615 HGNC:25786 REEP2 gene REEP2 Expert Review Green;Literature;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 72, autosomal dominant,615625;Spastic paraplegia 72, autosomal recessive, 615625 24388663;24482476;28491902;33526816 False 3 67;33;0 8.48 False ENSG00000132563 ENSG00000132563 HGNC:17975 RETREG1 gene RETREG1 Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115 24327336;30643655 False 3 100;0;0 8.48 False ENSG00000154153 ENSG00000154153 HGNC:25964 RINT1 gene RINT1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal hereditary spastic paraplegia, MONDO:0019064 37463447;38990652 False 3 100;0;0 8.48 False ENSG00000135249 ENSG00000135249 HGNC:21876 RNASEH2B gene RNASEH2B Expert Review Green;Other Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:61018 30223285;25243380;29691679;28762473;29239743 False 3 100;0;0 8.48 False Other ENSG00000136104 ENSG00000136104 HGNC:25671 RNF170 gene RNF170 Expert list;Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 85, autosomal recessive, OMIM:619686 31636353;33165979;35041108 False 3 100;0;0 8.48 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNU7-1 gene RNU7-1 Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy 33230297 False 3 100;0;0 8.48 False ENSG00000238923 ENSG00000238923 HGNC:34033 RTN2 gene RTN2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology 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;24123792;28362824;38527963 False 3 80;20;0 8.48 False ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 10655055;20876471 False 3 67;33;0 8.48 False ENSG00000151835 ENSG00000151835 HGNC:10519 SERAC1 gene SERAC1 Expert Review Green;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 27604308;29205472;27186703;28482397;28778788;22683713;16527507 False 3 67;33;0 8.48 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC16A2 gene SLC16A2 Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 12871948;14661163;19194886;20713192;22805248;23419639;24170966;25755011;25900139;28742507;31410843 False 3 67;33;0 8.48 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A4 gene SLC1A4 Expert Review;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 26138499;25930971;26041762;27193218;29989513 False 3 67;33;0 8.48 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A15 gene SLC25A15 Expert list;Expert Review Green Childhood 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 8.48 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC2A1 gene SLC2A1 Expert Review Green;Literature;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown spastic paraplegia;seizure;Dystonia 9, 601042;Developmental delay;paroxysmal choreoathetosis 21832227;18606970;11136715;27725288 False 3 100;0;0 8.48 False ENSG00000117394 ENSG00000117394 HGNC:11005 SOD1 gene SOD1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 31314961;31332433;34380534;34788402;36935613;39629626 False 3 100;0;0 8.48 False ENSG00000142168 ENSG00000142168 HGNC:11179 SPART gene SPART Expert list;Expert Review Green;London North GLH;NHS GMS;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900;Spastic paraplegia 20 12134148;18413476;20301556;20437587;27112432;28679690 False 3 67;33;0 8.48 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 10610178;10699187;11039577;10980739;15210521;16832076;39731306 False 3 50;50;0 8.48 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 8.48 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPG11 gene SPG11 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, 604360 16699786;17322883 False 3 67;33;0 8.48 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive;Mast syndrome, 248900 14564668;28752238;24451228 False 3 50;50;0 8.48 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood 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 67;33;0 8.48 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 20493457;22656320;35150594 False 3 100;0;0 8.48 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTSSA gene SPTSSA Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 90A, autosomal dominant, OMIM:620416;spastic paraplegia 90A, autosomal dominant, MONDO:0957308;?Spastic paraplegia 90B, autosomal recessive, OMIM:620417 26438849;33662400;36718090;40533086 False 3 100;0;0 8.48 False ENSG00000165389 ENSG00000165389 HGNC:20361 STN1 gene STN1 Expert Review Green;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 27432940;32627942 False 3 100;0;0 8.48 False ENSG00000107960 ENSG00000107960 HGNC:26200 TAF8 gene TAF8 Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 29648665;35759269 False 3 50;50;0 8.48 False ENSG00000137413 ENSG00000137413 HGNC:17300 TECPR2 gene TECPR2 Expert list;Expert Review Green;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 23176824;26542466;33847017 False 3 67;33;0 8.48 False ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert list;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 23479643;27492651;27601211;28124177;29971521;30467354;33767317 False 3 67;33;0 8.48 False ENSG00000114354 ENSG00000114354 HGNC:11758 TMEM63C gene TMEM63C Expert Review Green;Literature;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 87, autosomal recessive, OMIM:619966 35718349 False 3 100;0;0 8.48 False ENSG00000165548 ENSG00000165548 HGNC:23787 TNR gene TNR Expert list;Expert Review Green;NHS GMS Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 28334938;32099069 False 3 100;0;0 8.48 False ENSG00000116147 ENSG00000116147 HGNC:11953 TUBB4A gene TUBB4A Expert Review;Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6 612438;ataxia;Dystonia 4, torsion, autosomal dominant 128101 False 3 67;33;0 8.48 False ENSG00000104833 ENSG00000104833 HGNC:20774 UBAP1 gene UBAP1 Expert Review Green;Literature;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia 30929741 False 3 100;0;0 8.48 False ENSG00000165006 ENSG00000165006 HGNC:12461 UCHL1 gene UCHL1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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;11555633;33159930;35986737 False 3 75;25;0 8.48 False ENSG00000154277 ENSG00000154277 HGNC:12513 WDR45B gene WDR45B Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood 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 3 67;33;0 8.48 False ENSG00000141580 ENSG00000141580 HGNC:25072 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 18394578 False 3 33;67;0 8.48 False ENSG00000072121 ENSG00000072121 HGNC:20761 ALK gene ALK Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia 32989326 False 2 0;100;0 8.48 False ENSG00000171094 ENSG00000171094 HGNC:427 AMPD2 gene AMPD2 Expert list;Expert Review Amber;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 63, 615686, AR;Pontocerebellar hypoplasia, type 9, 615809, AR Novarino et al. (2014);24482476;27159321 False 2 33;67;0 8.48 False ENSG00000116337 ENSG00000116337 HGNC:469 ATAD3A gene ATAD3A Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Harel-Yoon syndrome, OMIM:617183;Spastic paraplegia 28158749;27640307;33845882;34387651 False 2 50;0;50 8.48 False ENSG00000197785 ENSG00000197785 HGNC:25567 BHLHE22 gene BHLHE22 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39502664 False 2 100;0;0 8.48 False ENSG00000180828 ENSG00000180828 HGNC:11963 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 8.48 False ENSG00000135441 ENSG00000135441 HGNC:4200 BORCS5 gene BORCS5 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 8.48 False ENSG00000165714 ENSG00000165714 HGNC:17950 CCDC82 gene CCDC82 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;hereditary spastic paraplegia, MONDO:0019064 35118659;35373332 False 2 0;100;0 8.48 False ENSG00000149231 ENSG00000149231 HGNC:26282 CHP1 gene CHP1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 8.48 False ENSG00000187446 ENSG00000187446 HGNC:17433 DSTYK gene DSTYK Expert Review Amber;London North GLH;NHS GMS;Other;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 23, 270750;ongenital anomalies of kidney and urinary tract 1, 610805, AD;Spastic paraplegia 23, 270750, AR 28157540 False 2 33;67;0 8.48 False ENSG00000133059 ENSG00000133059 HGNC:29043 EXOSC3 gene EXOSC3 Expert list;Expert Review Amber Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 25149867;23975261 False 2 0;100;0 8.48 False ENSG00000107371 ENSG00000107371 HGNC:17944 FBXO31 gene FBXO31 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;Spasticity, HP:0001257;?Intellectual developmental disorder, autosomal recessive 45, OMIM:615979 24623383;32989326;33675180;35019165;41640354;41640354 False 2 100;0;0 8.48 False ENSG00000103264 ENSG00000103264 HGNC:16510 GAD1 gene GAD1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic, 1, 603513 False 2 0;100;0 8.48 False ENSG00000128683 ENSG00000128683 HGNC:4092 GJC2 gene GJC2 Expert list;Expert Review Amber;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood 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 25;50;25 8.48 False ENSG00000198835 ENSG00000198835 HGNC:17494 IBA57 gene IBA57 Expert Review Amber;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 30258207;25609768 False 2 50;50;0 8.48 False ENSG00000181873 ENSG00000181873 HGNC:27302 LSM7 gene LSM7 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046 35047835;39420558 False 2 0;0;100 8.48 False ENSG00000130332 ENSG00000130332 HGNC:20470 LYST gene LYST Expert Review Amber;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Chediak-Higashi syndrome, 214500 24521565;26307451;25519961;25519960 False 2 33;67;0 8.48 False ENSG00000143669 ENSG00000143669 HGNC:1968 MARS2 gene MARS2 Expert Review Amber;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, 611390 22448145 False 2 67;33;0 8.48 False ENSG00000247626 ENSG00000247626 HGNC:25133 MTPAP gene MTPAP Expert Review Amber;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive;?Spastic ataxia 4, autosomal recessive, 613672 20970105;27391121 False 2 33;67;0 8.48 False ENSG00000107951 ENSG00000107951 HGNC:25532 NFU1 gene NFU1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 93, autosomal recessive, OMIM:620938;spastic paraplegia 93, autosomal recessive, MONDO:0975796 36256512 False 2 100;0;0 8.48 False ENSG00000169599 ENSG00000169599 HGNC:16287 NRCAM gene NRCAM Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 35108495 False 2 100;0;0 8.48 False ENSG00000091129 ENSG00000091129 HGNC:7994 PI4KA gene PI4KA Expert Review Amber Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 2 33;67;0 8.48 False ENSG00000241973 ENSG00000241973 HGNC:8983 POLR3K gene POLR3K Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 8.48 False ENSG00000161980 ENSG00000161980 HGNC:14121 PTPN1 gene PTPN1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 10066179;39986310 False 2 100;0;0 8.48 False ENSG00000196396 ENSG00000196396 HGNC:9642 RHOB gene RHOB Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy 32989326 False 2 0;100;0 8.48 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143878 ENSG00000143878 HGNC:668 RPS6KC1 gene RPS6KC1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41130203 False 2 100;0;0 8.48 False ENSG00000136643 ENSG00000136643 HGNC:10439 SARS2 gene SARS2 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845;Progressive Spastic Paresis 21255763;24034276;27279129 False 2 0;100;0 8.48 False ENSG00000104835 ENSG00000104835 HGNC:17697 SLC25A46 gene SLC25A46 Expert Review Amber;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, 616505 28369803;26168012 False 2 0;33;67 8.48 False ENSG00000164209 ENSG00000164209 HGNC:25198 TBCB gene TBCB Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 40856104 False 2 0;100;0 8.48 False ENSG00000105254 ENSG00000105254 HGNC:1989 TYW1 gene TYW1 Expert Review Amber;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal cerebral palsy, MONDO:0006497 34077496 False 2 0;100;0 8.48 False ENSG00000198874 ENSG00000198874 HGNC:25598 VAMP1 gene VAMP1 Expert Review Amber;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 22958904;27957547 False 2 33;67;0 8.48 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert list;Expert Review Amber;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, 614898, AR Zivony-Elboum et al. (2012);22717650 False 2 33;33;33 8.48 False ENSG00000155975 ENSG00000155975 HGNC:24928 WDR48 gene WDR48 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia Novarino et al. (2014);24482476 False 2 0;100;0 8.48 False ENSG00000114742 ENSG00000114742 HGNC:30914 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516;spinocerebellar ataxia type 10, MONDO:0011330 12164725;35441258;36199580;40067487 False 3 67;33;0 8.48 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Childhood 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 8.48 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ATXN1_CAG str ATXN1 NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 2 0;100;0 8.48 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 NHS GMS;Expert Review Amber;Expert list Childhood 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 2 0;100;0 8.48 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 2 0;100;0 8.48 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 2 0;100;0 8.48 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CACNA1A_CAG str CACNA1A NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 9311738;18285829;19817876;16595610;8988170 False 2 0;100;0 8.48 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 PPP2R2B_CAG str PPP2R2B NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 2 0;100;0 8.48 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP NHS GMS;Expert Review Amber;Expert list Childhood onset hereditary spastic paraplegia Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 False 2 100;0;0 8.48 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-46304-Gain region ClinGen;Expert Review Green Childhood 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) 22679399;29141583;29618507;32043567 False 3 100;0;0 8.48 False X 154008529 154110279 3 60 cnv_gain Xq28 region (includes MECP2) Gain