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 Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Adrenoleukodystrophy, MIM# 300100" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;Intellectual Disability;Corpus callosum abnormalities Spasticity;HP:0001257 PMID: 34587489 False 3 100;0;0 1.86 True ENSG00000204427 ENSG00000204427 HGNC:13921 ADAR gene ADAR Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, 615010 autosomal recessive Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000160710 ENSG00000160710 HGNC:225 AFG3L2 gene AFG3L2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM# 614487;Spinocerebellar ataxia 28, MIM# 610246 Spasticity;HP:0001257 22022284;25401298;20208537;20725928;33075064;32248051;30910913 False 3 100;0;0 1.86 True Other ENSG00000141385 ENSG00000141385 HGNC:315 AIMP1 gene AIMP1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, MIM#260600 Spasticity;HP:0001257 21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 1.86 True ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric 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 1.86 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sj gren-Larsson syndrome Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000072210 ENSG00000072210 HGNC:403 ALS2 gene ALS2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paralysis, infantile onset ascending, MIM# 607225 Spasticity;HP:0001257 12145748;12509863;24315819 False 3 100;0;0 1.86 True ENSG00000003393 ENSG00000003393 HGNC:443 AMFR gene AMFR Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 89, autosomal recessive, MIM# 620379 Spasticity;HP:0001257 37119330 False 3 100;0;0 1.86 True ENSG00000159461 ENSG00000159461 HGNC:463 AP4B1 gene AP4B1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, 614066 Spasticity;HP:0001257 21620353;22290197;24700674;24781758;32979048;32171285;32166732;31525725;31525725 False 3 100;0;0 1.86 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, 613744 Spasticity;HP:0001257 20972249;21620353;21937992;32979048;23472171 False 3 100;0;0 1.86 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 Spasticity;HP:0001257 19559397;21937992;21937992;32979048;31915823;29096665;28464862;25496299 False 3 100;0;0 1.86 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;Spastic paraplegia 52, autosomal recessive, 614067;seizures Spasticity;HP:0001257 21620353;25552650;32979048;32216065;31915823;30283821;27444738 False 3 100;0;0 1.86 True ENSG00000100478 ENSG00000100478 HGNC:575 ARG1 gene ARG1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive spastic tetraplegia;Argininaemia, 207800 Spasticity;HP:0001257 29726057 False 3 100;0;0 1.86 True ENSG00000118520 ENSG00000118520 HGNC:663 ARL6IP1 gene ARL6IP1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 61, autosomal recessive, MIM#615685 Spasticity;HP:0001257 24482476;31272422;30980493;28471035 False 3 100;0;0 1.86 True ENSG00000170540 ENSG00000170540 HGNC:697 ATAD3A gene ATAD3A Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183 Spasticity;HP:0001257 28158749;27640307 False 3 100;0;0 1.86 True ENSG00000197785 ENSG00000197785 HGNC:25567 ATL1 gene ATL1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary sensory neuropathy type ID, MIM 613708;Spastic paraplegia 3A, MIM 182600;Hereditary spastic paraplegia, AR Spasticity;HP:0001257 16401858;16537571;17657515;28396731;24473461;26888483 False 3 100;0;0 1.86 True ENSG00000198513 ENSG00000198513 HGNC:11231 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive MIM#609195 Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000135454 ENSG00000135454 HGNC:4117 BCAS3 gene BCAS3 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Spasticity;HP:0001257 34022130 False 3 100;0;0 1.86 True ENSG00000141376 ENSG00000141376 HGNC:14347 BSCL2 gene BSCL2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Silver spastic paraplegia syndrome MIM#270685;Encephalopathy, progressive, with or without lipodystrophy MIM#615924" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, 615035;optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy;Combined oxidative phosphorylation deficiency 7, 613559 Spasticity;HP:0001257 23188110;24080142;24198383 False 3 100;0;0 1.86 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298;Spastic paraplegia 43, autosomal recessive, 615043 Spasticity;HP:0001257 33688131;21981780;22508347;23269600;31804703;30088953;20039086 False 3 100;0;0 1.86 True ENSG00000131943 ENSG00000131943 HGNC:25443 CCDC82 gene CCDC82 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Spasticity;HP:0001257 35373332;35118659;27457812 False 3 100;0;0 1.86 True ENSG00000149231 ENSG00000149231 HGNC:26282 CYP2U1 gene CYP2U1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 Spasticity;HP:0001257 23176821;32006740;29034544 False 3 100;0;0 1.86 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 5A, autosomal recessive, MIM# 270800" Spasticity;HP:0001257 19439420;18252231 False 3 100;0;0 1.86 True ENSG00000172817 ENSG00000172817 HGNC:2652 DARS gene DARS Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Spasticity;HP:0001257 25527264;23643384 False 3 100;0;0 1.86 True ENSG00000115866 ENSG00000115866 HGNC:2678 DDHD1 gene DDHD1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 28, autosomal recessive, MIM# 609340;MONDO:0012256" Spasticity;HP:0001257 23176821 False 3 100;0;0 1.86 True ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 54, autosomal recessive, MIM# 615033;MONDO:0014018" Spasticity;HP:0001257 23486545;24482476;23176823 False 3 100;0;0 1.86 True ENSG00000085788 ENSG00000085788 HGNC:29106 ELOVL1 gene ELOVL1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527" Spasticity;HP:0001257 29496980;32123819;30487246 False 3 100;0;0 1.86 True ENSG00000066322 ENSG00000066322 HGNC:14418 ENTPD1 gene ENTPD1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive MIM#615683 Spasticity;HP:0001257 24482476;30652007;35471564 False 3 100;0;0 1.86 True ENSG00000138185 ENSG00000138185 HGNC:3363 ERLIN1 gene ERLIN1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 62, 615681;Hereditary spastic paraplegia Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000107566 ENSG00000107566 HGNC:16947 ERLIN2 gene ERLIN2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 1.86 True ENSG00000147475 ENSG00000147475 HGNC:1356 FA2H gene FA2H Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 35, autosomal recessive, MIM# 612319" Spasticity;HP:0001257 20104589;23745665;19068277;20853438;22146942 False 3 100;0;0 1.86 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAR1 gene FAR1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cataracts, spastic paraparesis, and speech delay, MIM#619338;Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154" Spasticity;HP:0001257 PMID: 33239752 False 3 100;0;0 1.86 True ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 Spasticity;HP:0001257 26553276;25851414;29126765 False 3 100;0;0 1.86 True ENSG00000145982 ENSG00000145982 HGNC:21062 FICD gene FICD Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 92, autosomal recessive, MIM# 620911 Spasticity;HP:0001257 36136088 False 3 100;0;0 1.86 True ENSG00000198855 ENSG00000198855 HGNC:18416 GAN gene GAN Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Giant axonal neuropathy-1, MIM# 256850" Spasticity;HP:0001257 26381321;11062483 False 3 100;0;0 1.86 True ENSG00000261609 ENSG00000261609 HGNC:4137 GBA2 gene GBA2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 46, autosomal recessive, MIM# 614409" Spasticity;HP:0001257 23332916;23332917 False 3 100;0;0 1.86 True ENSG00000070610 ENSG00000070610 HGNC:18986 GCH1 gene GCH1 Expert list;Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia MONDO:0019064, GCH1-related Spasticity;HP:0001257 21935284;24509643;33713342 False 3 0;100;0 1.86 True ENSG00000131979 ENSG00000131979 HGNC:4193 GFAP gene GFAP Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease MONDO:0008752 Spasticity;HP:0001257 34146839 False 3 100;0;0 1.86 True ENSG00000131095 ENSG00000131095 HGNC:4235 GLRX5 gene GLRX5 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spasticity, childhood-onset, with hyperglycinemia 616859" Spasticity;HP:0001257 PMID: 24334290;30770271 False 3 50;50;0 1.86 True ENSG00000182512 ENSG00000182512 HGNC:20134 GPT2 gene GPT2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Spasticity;HP:0001257 29882329;31471722;27601654 False 3 100;0;0 1.86 True ENSG00000166123 ENSG00000166123 HGNC:18062 HACE1 gene HACE1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756;MONDO:0014764;Spastic paraplegia;psychomotor retardation Spasticity;HP:0001257 26424145;26437029;31321300 False 3 100;0;0 1.86 True ENSG00000085382 ENSG00000085382 HGNC:21033 HPDL gene HPDL Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Spasticity;HP:0001257 32707086 False 3 100;0;0 1.86 True ENSG00000186603 ENSG00000186603 HGNC:28242 HSPD1 gene HSPD1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 4, MIM# 612233;Spastic paraplegia 13, autosomal dominant, MIM# 605280" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000144381 ENSG00000144381 HGNC:5261 IBA57 gene IBA57 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 74, autosomal recessive MIM#616451 Spasticity;HP:0001257 25609768;30258207 False 3 100;0;0 1.86 True ENSG00000181873 ENSG00000181873 HGNC:27302 IFIH1 gene IFIH1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7 MIM#615846 Spasticity;HP:0001257 25243380;31427910;24686847;24995871 False 3 100;0;0 1.86 True ENSG00000115267 ENSG00000115267 HGNC:18873 INPP4A gene INPP4A Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder Spasticity;HP:0001257 PMID: 39315527 False 3 100;0;0 1.86 False ENSG00000040933 ENSG00000040933 HGNC:6074 KDM5C gene KDM5C Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric 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 MIM# 300534;MONDO:0010355 Spasticity;HP:0001257 15586325;32279304 False 3 100;0;0 1.86 True ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296;MONDO:0015007 Spasticity;HP:0001257 27005418;29667355 False 3 100;0;0 1.86 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF1A gene KIF1A Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric 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 1.86 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, 611302;Spastic ataxia 2, autosomal recessive Spasticity;HP:0001257 24482476;24319291;31413903;29544888 False 3 100;0;0 1.86 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 10, autosomal dominant, MIM# 604187" Spasticity;HP:0001257 16489470;21623771;15452312;18853458;16476820 False 3 100;0;0 1.86 True ENSG00000155980 ENSG00000155980 HGNC:6323 KLC2 gene KLC2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Spasticity;HP:0001257 False 3 50;0;50 1.86 True ENSG00000174996 ENSG00000174996 HGNC:20716 KPNA3 gene KPNA3 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia-88 (SPG88), MIM#620106 Spasticity;HP:0001257 34564892 False 3 100;0;0 1.86 True ENSG00000102753 ENSG00000102753 HGNC:6396 L1CAM gene L1CAM Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hereditary spastic paraplegia, 308840;MASA syndrome, 303350;X-linked hydrocephalus, 307000 Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000198910 ENSG00000198910 HGNC:6470 MAG gene MAG Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, 616680;Cerebellar ataxia Spasticity;HP:0001257 31402626;24482476;26179919;32629324 False 3 100;0;0 1.86 True ENSG00000105695 ENSG00000105695 HGNC:6783 MAPK8IP3 gene MAPK8IP3 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with or without variable brain abnormalities 618443" Spasticity;HP:0001257 PMID: 30612693;30945334 False 3 100;0;0 1.86 True ENSG00000138834 ENSG00000138834 HGNC:6884 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive MIM#611390 Spasticity;HP:0001257 16672289;22448145 False 3 100;0;0 1.86 True ENSG00000247626 ENSG00000247626 HGNC:25133 MED27 gene MED27 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Spasticity;HP:0001257 33443317 False 3 100;0;0 1.86 True ENSG00000160563 ENSG00000160563 HGNC:2377 NFU1 gene NFU1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711);Spastic paraplegia 93, autosomal recessive, MIM# 620938 Spasticity;HP:0001257 36256512 False 3 100;0;0 1.86 True ENSG00000169599 ENSG00000169599 HGNC:16287 NIPA1 gene NIPA1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 6, autosomal dominant, MIM# 600363" Spasticity;HP:0001257 14508710;15711826 False 3 100;0;0 1.86 True ENSG00000170113 ENSG00000170113 HGNC:17043 NKX6-2 gene NKX6-2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560;MONDO:0033043 Spasticity;HP:0001257 28575651;15601927;32246862;32004679 False 3 100;0;0 1.86 True ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH1 gene NOTCH1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric 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 1.86 True Other ENSG00000148400 ENSG00000148400 HGNC:7881 NT5C2 gene NT5C2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, MIM# 613162;MONDO:0013165 Spasticity;HP:0001257 24482476;32153630;29123918;28884889;28327087 False 3 100;0;0 1.86 True ENSG00000076685 ENSG00000076685 HGNC:8022 OPA3 gene OPA3 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type III, MIM# 258501" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000125741 ENSG00000125741 HGNC:8142 PCYT2 gene PCYT2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy Spasticity;HP:0001257 31637422 False 3 100;0;0 1.86 True ENSG00000185813 ENSG00000185813 HGNC:8756 PI4KA gene PI4KA Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental syndrome with hypomyelinating leukodystrophy;Spastic paraplegia 84, autosomal recessive, MIM# 619621 Spasticity;HP:0001257 PMID: 34415322 False 3 100;0;0 1.86 True ENSG00000241973 ENSG00000241973 HGNC:8983 PLP1 gene PLP1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Spastic paraplegia 2, X-linked, MIM# 312920" Spasticity;HP:0001257 15627202;8012387 False 3 100;0;0 1.86 True ENSG00000123560 ENSG00000123560 HGNC:9086 PNPLA8 gene PNPLA8 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Spasticity;HP:0001257 PMID: 39082157 False 3 100;0;0 1.86 True ENSG00000135241 ENSG00000135241 HGNC:28900 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Martsolf syndrome 212720" Spasticity;HP:0001257 PMID: 32376645 False 3 100;0;0 1.86 True ENSG00000118873 ENSG00000118873 HGNC:17168 REEP1 gene REEP1 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 31, autosomal dominant, MIM# 610250" Spasticity;HP:0001257 16826527;19034539 False 3 100;0;0 1.86 True ENSG00000068615 ENSG00000068615 HGNC:25786 REEP2 gene REEP2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 72, dominant and recessive, MIM# 615625;MONDO:0014282 Spasticity;HP:0001257 33526816;28491902;24388663 False 3 100;0;0 1.86 True ENSG00000132563 ENSG00000132563 HGNC:17975 RINT1 gene RINT1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Spasticity;HP:0001257 37463447;38990652 False 3 50;50;0 1.86 True ENSG00000135249 ENSG00000135249 HGNC:21876 RNASEH2B gene RNASEH2B Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi Goutieres syndrome 2, MIM# 610181 Spasticity;HP:0001257 29691679;30223285;29239743;28762473 False 3 100;0;0 1.86 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNF170 gene RNF170 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 85, autosomal recessive, MIM# 619686 Spasticity;HP:0001257 31636353 False 3 100;0;0 1.86 True ENSG00000120925 ENSG00000120925 HGNC:25358 RNU7-1 gene RNU7-1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, MIM# 619487 Spasticity;HP:0001257 33230297 False 3 100;0;0 1.86 True ENSG00000238923 ENSG00000238923 HGNC:34033 RTN2 gene RTN2 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric 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 1.86 True ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi Goutieres syndrome 5, MIM# 612952 Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000101347 ENSG00000101347 HGNC:15925 SERAC1 gene SERAC1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000122335 ENSG00000122335 HGNC:21061 SHMT2 gene SHMT2 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Spasticity;HP:0001257 33015733 False 3 100;0;0 1.86 True ENSG00000182199 ENSG00000182199 HGNC:10852 SLC16A2 gene SLC16A2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, 300523, XL Spasticity;HP:0001257 15980113;31410843;20301789 False 3 100;0;0 1.86 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC1A4 gene SLC1A4 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657;MONDO:0014725 Spasticity;HP:0001257 25930971;26138499;26041762;27193218;29989513 False 3 100;0;0 1.86 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC2A1 gene SLC2A1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777;Developmental delay;autosomal dominant, complicated hereditary spastic paraplegia (HSP);paroxysmal choreoathetosis;spastic paraplegia;seizure Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000117394 ENSG00000117394 HGNC:11005 SNAPC4 gene SNAPC4 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Spasticity;HP:0001257 36965478 False 3 100;0;0 1.86 True ENSG00000165684 ENSG00000165684 HGNC:11137 SOD1 gene SOD1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Spasticity;HP:0001257 PMID: 31314961;31332433;34788402 False 3 100;0;0 1.86 True ENSG00000142168 ENSG00000142168 HGNC:11179 SPART gene SPART Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, MIM# 275900;SPG20;MONDO:0010156 Spasticity;HP:0001257 12134148;20437587;26003402;27112432;31535723;31535723;28875386;28679690 False 3 100;0;0 1.86 True ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 4, autosomal dominant, MIM# 182601" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 11, autosomal recessive, MIM# 604360" Spasticity;HP:0001257 18067136 False 3 100;0;0 1.86 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG7 gene SPG7 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 7, autosomal recessive, MIM# 607259" Spasticity;HP:0001257 22571692 False 3 100;0;0 1.86 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic Paraplegia MONDO:0019064, SPTAN1-related;Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Spasticity;HP:0001257 PMID: 35150594;34526651;31515523 False 3 100;0;0 1.86 True ENSG00000197694 ENSG00000197694 HGNC:11273 TBCE gene TBCE Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Encephalopathy, progressive, with amyotrophy and optic atrophy 617207" Spasticity;HP:0001257 PMID: 27666369 False 3 100;0;0 1.86 True ENSG00000116957 ENSG00000116957 HGNC:11582 TECPR2 gene TECPR2 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031;Autonomic-sensory neuropathy Spasticity;HP:0001257 23176824;26542466 False 3 100;0;0 1.86 True ENSG00000196663 ENSG00000196663 HGNC:19957 TFG gene TFG Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, MIM# 615658 Spasticity;HP:0001257 30467354;30157421;28124177;27601211;27492651;23479643 False 3 100;0;0 1.86 True ENSG00000114354 ENSG00000114354 HGNC:11758 TMEM63C gene TMEM63C Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 87, autosomal recessive, MIM# 619966 Spasticity;HP:0001257 PMID: 35718349 False 3 100;0;0 1.86 True ENSG00000165548 ENSG00000165548 HGNC:23787 TSPOAP1 gene TSPOAP1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, intellectual disability and cerebellar atrophy Spasticity;HP:0001257 33539324 False 3 100;0;0 1.86 True ENSG00000005379 ENSG00000005379 HGNC:16831 TUBA4A gene TUBA4A Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary ataxia MONDO:0100309, TUBA4A-related Spasticity;HP:0001257 38884572;37418012 False 3 100;0;0 1.86 True Other ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB4A gene TUBB4A Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leukodystrophy, hypomyelinating, 6, MIM# 612438" Spasticity;HP:0001257 23582646;24850488 False 3 100;0;0 1.86 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBAP1 gene UBAP1 Expert Review Green;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Childhood-onset hereditary spastic paraplegia;Spastic paraplegia 80, autosomal dominant 618418" Spasticity;HP:0001257 31696996 False 3 100;0;0 1.86 True Other ENSG00000165006 ENSG00000165006 HGNC:12461 UCHL1 gene UCHL1 Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79A, autosomal dominant, MIM# 620221;Spastic paraplegia 79, autosomal recessive, 615491;MONDO:0014209;Neurodegenerative disease, MONDO:0005559, UCHL1-related Spasticity;HP:0001257 23359680;3340629;28007905;32656641;29735986;28007905;35986737 False 3 100;0;0 1.86 True ENSG00000154277 ENSG00000154277 HGNC:12513 WDR45B gene WDR45B Expert Review Green;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations;Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977 Spasticity;HP:0001257 21937992;28503735;27431290 False 3 100;0;0 1.86 True ENSG00000141580 ENSG00000141580 HGNC:25072 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 15, autosomal recessive, MIM# 270700" Spasticity;HP:0001257 False 3 100;0;0 1.86 True ENSG00000072121 ENSG00000072121 HGNC:20761