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 AAAS gene AAAS Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome MIM#231550;complicated hereditary spastic paraplegia Spasticity;HP:0001257 30381913 False 2 0;100;0 1.86 True ENSG00000094914 ENSG00000094914 HGNC:13666 ALK gene ALK Expert Review Amber;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia Spasticity;HP:0001257 PMID: 32989326 False 2 0;100;0 1.86 True ENSG00000171094 ENSG00000171094 HGNC:427 AP5Z1 gene AP5Z1 Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 48, autosomal recessive, MIM# 613647" Spasticity;HP:0001257 26085577 False 2 0;100;0 1.86 True ENSG00000242802 ENSG00000242802 HGNC:22197 CCDC88C gene CCDC88C Expert Review Amber;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset pure hereditary spastic paraplegia Spasticity;HP:0001257 33602173 False 2 0;100;0 1.86 True ENSG00000015133 ENSG00000015133 HGNC:19967 CHMP3 gene CHMP3 Expert Review Amber;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Spasticity;HP:0001257 PMID: 35710109 False 2 0;100;0 1.86 True ENSG00000115561 ENSG00000115561 HGNC:29865 DSTYK gene DSTYK Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, MIM#270750 Spasticity;HP:0001257 28157540;23862974 False 2 0;100;0 1.86 True ENSG00000133059 ENSG00000133059 HGNC:29043 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;Complicated hereditary spastic paraplegia Spasticity;HP:0001257 25149867;23975261 False 2 0;100;0 1.86 True ENSG00000107371 ENSG00000107371 HGNC:17944 GJC2 gene GJC2 Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 44, autosomal recessive, MIM# 613206" Spasticity;HP:0001257 19056803;31431325;25059390 False 2 0;100;0 1.86 True ENSG00000198835 ENSG00000198835 HGNC:17494 IRF2BPL gene IRF2BPL Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088" Spasticity;HP:0001257 PMID: 30057031;30166628 False 2 0;100;0 1.86 True ENSG00000119669 ENSG00000119669 HGNC:14282 MARS gene MARS Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 70, autosomal recessive, MIM# 620323 Spasticity;HP:0001257 24482476;34585293 False 2 0;50;50 1.86 True ENSG00000166986 ENSG00000166986 HGNC:6898 PNPLA6 gene PNPLA6 Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 39, autosomal recessive, MIM# 612020" Spasticity;HP:0001257 18313024 False 2 0;100;0 1.86 True ENSG00000032444 ENSG00000032444 HGNC:16268 SEC31A gene SEC31A Expert Review Amber;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651;congenital neurodevelopmental syndrome;spastic paraplegia;multiple contractures;profound developmental delay;epilepsy;failure to thrive" Spasticity;HP:0001257 30464055 False 2 0;100;0 1.86 True ENSG00000138674 ENSG00000138674 HGNC:17052 SELENOI gene SELENOI Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 81, autosomal recessive 618768;developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals Spasticity;HP:0001257 28052917;29500230 False 2 0;100;0 1.86 True ENSG00000138018 ENSG00000138018 HGNC:29361 SOX10 gene SOX10 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocristopathy;PCWH syndrome, MIM#609136;Complicated hereditary spastic paraplegia Spasticity;HP:0001257 28534044 False 2 0;100;0 1.86 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPTSSA gene SPTSSA Expert Review Amber;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 90B, autosomal recessive , MIM# 620417;Spastic paraplegia 90A, autosomal dominant, MIM# 620416 Spasticity;HP:0001257 36718090 False 2 50;50;0 1.86 True ENSG00000165389 ENSG00000165389 HGNC:20361 UNC80 gene UNC80 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Spasticity;HP:0001257 27513830 False 2 0;100;0 1.86 True ENSG00000144406 ENSG00000144406 HGNC:26582 USP8 gene USP8 Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia Spasticity;HP:0001257 24482476 False 2 0;100;0 1.86 True ENSG00000138592 ENSG00000138592 HGNC:12631 VAMP1 gene VAMP1 Expert list;Expert Review Amber Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" Spasticity;HP:0001257 22958904 False 2 0;100;0 1.86 True ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert Review Amber;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR Spasticity;HP:0001257 22717650 False 2 0;100;0 1.86 True ENSG00000155975 ENSG00000155975 HGNC:24928