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 list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset 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) spastic paraparesis;Hereditary spastic paraplegia;Adrenoleukodystrophy, 300100;VLCFA accumulation;adrenal failure Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000101986 ENSG00000101986 HGNC:61 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9B, autosomal recessive, MIM# 616586;Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Spasticity;HP:0001257 26026163;29915212 False 3 100;0;0 1.19 True ENSG00000059573 ENSG00000059573 HGNC:9722 AP5Z1 gene AP5Z1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, MIM# 613647;MONDO:0013342 Spasticity;HP:0001257 26085577;33543803;27606357 False 3 100;0;0 1.19 True ENSG00000242802 ENSG00000242802 HGNC:22197 ATL1 gene ATL1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 3A, MIM 182600;Hereditary spastic paraplegia, AR Spasticity;HP:0001257 16401858;16537571;17657515;28396731;24473461;26888483 False 3 100;0;0 1.19 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATP13A2 gene ATP13A2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive, 617225;Kufor-Rakeb syndrome, 606693 AR;complicated hereditary spastic paraplegia;Adult-onset lower-limb predominant spastic paraparesis Spasticity;HP:0001257 27217339;28137957 False 3 100;0;0 1.19 True ENSG00000159363 ENSG00000159363 HGNC:30213 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195 Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000135454 ENSG00000135454 HGNC:4117 BSCL2 gene BSCL2 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver spastic paraplegia syndrome, 270685;HSP 17, MONDO:0010043 Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000168000 ENSG00000168000 HGNC:15832 C19orf12 gene C19orf12 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 4, MIM# 614298;Spastic paraplegia 43, autosomal recessive, MIM# 615043" Spasticity;HP:0001257 20039086;21981780;23269600;31087512 False 3 100;0;0 1.19 True ENSG00000131943 ENSG00000131943 HGNC:25443 CAPN1 gene CAPN1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76 autosomal recessive, 616907;MONDO:0014827 Spasticity;HP:0001257 27153400 False 3 100;0;0 1.19 True ENSG00000014216 ENSG00000014216 HGNC:1476 CYP27A1 gene CYP27A1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;MONDO:0008948;progressive lower extremity spasticity,often disproportionate to any degree of weakness Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, 270800;MONDO:0010047 Spasticity;HP:0001257 19439420;18252231 False 3 100;0;0 1.19 True ENSG00000172817 ENSG00000172817 HGNC:2652 DARS gene DARS Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset 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 Spasticity;HP:0001257 25527264;23643384 False 3 100;0;0 1.19 True ENSG00000115866 ENSG00000115866 HGNC:2678 DDHD1 gene DDHD1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia 28, MONDO:0012256 Spasticity;HP:0001257 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 False 3 100;0;0 1.19 True ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert Review Green;Literature Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, MIM# 615033;MONDO:0014018 Spasticity;HP:0001257 23486545;24482476;23176823;31302745 False 3 100;0;0 1.19 True ENSG00000085788 ENSG00000085788 HGNC:29106 ERLIN2 gene ERLIN2 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 18, autosomal recessive, MIM# 611225;Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Spasticity;HP:0001257 23109145;21330303;32094424;29528531 False 3 100;0;0 1.19 True ENSG00000147475 ENSG00000147475 HGNC:1356 FA2H gene FA2H Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, 611026;MONDO:0012866 Spasticity;HP:0001257 20104589;23745665;19068277;20853438;22146942;30446360 False 3 100;0;0 1.19 True ENSG00000103089 ENSG00000103089 HGNC:21197 FBXO7 gene FBXO7 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive MIM#260300 Spasticity;HP:0001257 18513678;19038853 False 3 100;0;0 1.19 True ENSG00000100225 ENSG00000100225 HGNC:13586 FXN gene FXN Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, 229300 Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease MIM#245200 Spasticity;HP:0001257 9272171;11971051;22959700;26396125;26915362;28547031;31185936;32064984 False 3 100;0;0 1.19 True ENSG00000054983 ENSG00000054983 HGNC:4115 GBA2 gene GBA2 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409;MONDO:0013737 Spasticity;HP:0001257 23332916;23332917;29524657 False 3 100;0;0 1.19 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form MIM#263570 Spasticity;HP:0001257 23034915 False 3 100;0;0 1.19 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCH1 gene GCH1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230" Spasticity;HP:0001257 21935284;24509643 False 3 100;0;0 1.19 True ENSG00000131979 ENSG00000131979 HGNC:4193 GFAP gene GFAP Expert Review Green;Literature Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease MONDO:0008752 Spasticity;HP:0001257 11138011;18684770 False 3 100;0;0 1.19 True Other ENSG00000131095 ENSG00000131095 HGNC:4235 GJA1 gene GJA1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Spasticity;HP:0001257 31023660 False 3 100;0;0 1.19 True ENSG00000152661 ENSG00000152661 HGNC:4274 KCNA2 gene KCNA2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia and ataxia Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000177301 ENSG00000177301 HGNC:6220 KIF1A gene KIF1A Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 30, autosomal dominant MIM# 610357;Spastic paraplegia 30, autosomal recessive 620607 Spasticity;HP:0001257 26410750;21487076;22258533;32096284;31488895;29159194;25585697 False 3 100;0;0 1.19 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF5A gene KIF5A Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant, MIM# 604187 Spasticity;HP:0001257 16489470;21623771;15452312;18853458;16476820 False 3 100;0;0 1.19 True ENSG00000155980 ENSG00000155980 HGNC:6323 NIPA1 gene NIPA1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 6, autosomal dominant, MIM# 600363;MONDO:0010878 Spasticity;HP:0001257 14508710;15711826;32500351;25133278 False 3 100;0;0 1.19 True ENSG00000170113 ENSG00000170113 HGNC:17043 NOTCH1 gene NOTCH1 Expert Review Green;Literature Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Spasticity;HP:0001257 35947102 False 3 100;0;0 1.19 True Other ENSG00000148400 ENSG00000148400 HGNC:7881 OPA3 gene OPA3 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, MIM# 258501 Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000125741 ENSG00000125741 HGNC:8142 PCYT2 gene PCYT2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 82, autosomal recessive, MIM# 618770;global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy" Spasticity;HP:0001257 31637422 False 3 100;0;0 1.19 True ENSG00000185813 ENSG00000185813 HGNC:8756 PLP1 gene PLP1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked recessive, 312920 Spasticity;HP:0001257 15627202;8012387 False 3 100;0;0 1.19 True ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39, autosomal recessive, 612020 Spasticity;HP:0001257 18313024 False 3 100;0;0 1.19 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLR3A gene POLR3A Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia Spasticity;HP:0001257 31637490 False 3 100;0;0 1.19 True ENSG00000148606 ENSG00000148606 HGNC:30074 PSEN1 gene PSEN1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822 Spasticity;HP:0001257 33274538 False 3 100;0;0 1.19 True ENSG00000080815 ENSG00000080815 HGNC:9508 REEP1 gene REEP1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 31, autosomal dominant, 610250;MONDO:0012453 Spasticity;HP:0001257 16826527;19034539 False 3 100;0;0 1.19 True ENSG00000068615 ENSG00000068615 HGNC:25786 RPS6KC1 gene RPS6KC1 Expert Review Green;Literature Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related Spasticity;HP:0001257 41130203 False 3 100;0;0 1.19 True ENSG00000136643 ENSG00000136643 HGNC:10439 RTN2 gene RTN2 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 12, autosomal dominant, 604805;MONDO:0011489 Spasticity;HP:0001257 22232211;27165006 False 3 100;0;0 1.19 True ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550;MONDO:0010041 Spasticity;HP:0001257 False 3 100;0;0 1.19 True ENSG00000151835 ENSG00000151835 HGNC:10519 SLC25A15 gene SLC25A15 Expert list;Expert Review Green Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Spasticity;HP:0001257 16376511;22465082;28592010 False 3 100;0;0 1.19 True ENSG00000102743 ENSG00000102743 HGNC:10985 SPAST gene SPAST Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant, 182601 Spasticity;HP:0001257 30476002;30006150 False 3 100;0;0 1.19 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, MIM# 604360 Spasticity;HP:0001257 18067136 False 3 100;0;0 1.19 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mast syndrome, 248900;Spastic Paraplegia, autosomal recessive Spasticity;HP:0001257 14564668;24451228;28752238;26978163 False 3 100;0;0 1.19 True ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, 607259;MONDO:0011803 Spasticity;HP:0001257 22571692 False 3 100;0;0 1.19 True ENSG00000197912 ENSG00000197912 HGNC:11237 TUBA4A gene TUBA4A Expert Review Green;Literature Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 11, autosomal dominant, MIM# 621226 Spasticity;HP:0001257 38884572;37418012 False 3 100;0;0 1.19 True Other ENSG00000127824 ENSG00000127824 HGNC:12407 UBAP1 gene UBAP1 Expert Review Green;Literature;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 80, autosomal dominant 618418 Spasticity;HP:0001257 31696996;32934340 False 3 100;0;0 1.19 True Other ENSG00000165006 ENSG00000165006 HGNC:12461 WASHC5 gene WASHC5 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 8, autosomal dominant, 603563;MONDO:0011339 Spasticity;HP:0001257 23455931;17160902;31814071;26572744 False 3 100;0;0 1.19 True ENSG00000164961 ENSG00000164961 HGNC:28984 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, 270700;MONDO:0010044 Spasticity;HP:0001257 31385551 False 3 100;0;0 1.19 True ENSG00000072121 ENSG00000072121 HGNC:20761 ATP2B4 gene ATP2B4 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pure and complicated hereditary spastic paraplegia Spasticity;HP:0001257 29691679;25798335;25119969 False 2 0;100;0 1.19 True ENSG00000058668 ENSG00000058668 HGNC:817 BICD2 gene BICD2 Expert list;Expert Review Amber Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Spasticity;HP:0001257 23664120;25497877;24482476 False 2 0;100;0 1.19 True ENSG00000185963 ENSG00000185963 HGNC:17208 CPT1C gene CPT1C Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 73, autosomal dominant, MIM#616282;MONDO:0014568 Spasticity;HP:0001257 25751282;30911584;30564185;23973755;41312619 False 2 50;50;0 1.19 True ENSG00000169169 ENSG00000169169 HGNC:18540 GJC2 gene GJC2 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, AR;Spastic paraplegia 44, autosomal recessive 613206, AR Spasticity;HP:0001257 19056803;23684670 False 2 0;100;0 1.19 True ENSG00000198835 ENSG00000198835 HGNC:17494 HSPD1 gene HSPD1 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, MIM# 605280 Spasticity;HP:0001257 26900593;11898127;17420924 False 2 0;100;0 1.19 True ENSG00000144381 ENSG00000144381 HGNC:5261 LYST gene LYST Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Spastic paraplegia;Chediak-Higashi syndrome, 214500 Spasticity;HP:0001257 26307451;24521565 False 2 0;100;0 1.19 True ENSG00000143669 ENSG00000143669 HGNC:1968 TUBB4A gene TUBB4A Expert list;Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ataxia;Leukodystrophy, hypomyelinating, 612438 AD;Dystonia 4, torsion, autosomal dominant, 128101 Spasticity;HP:0001257 23582646;24850488 False 2 0;100;0 1.19 True ENSG00000104833 ENSG00000104833 HGNC:20774 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 1, autosomal dominant, 108600 Spasticity;HP:0001257 22958904 False 2 0;100;0 1.19 True ENSG00000139190 ENSG00000139190 HGNC:12642 FXN_FRDA_GAA str FXN Expert Review Green;Expert list Hereditary Spastic Paraplegia - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia MIM#229300 Spasticity;HP:0001257 20301458;8596916 False 3 100;0;0 1.19 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 33 66