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 ACOX1 gene ACOX1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudoneonatal adrenoleukodystrophy Spasticity;HP:0001257 18536048 False 1 0;0;100 1.86 True ENSG00000161533 ENSG00000161533 HGNC:119 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 63 MIM#615686 Spasticity;HP:0001257 24482476;30089829;29463858 False 1 0;0;100 1.86 True ENSG00000116337 ENSG00000116337 HGNC:469 ARSI gene ARSI Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset spastic paraplegia Spasticity;HP:0001257 24482476 False 1 0;0;100 1.86 True ENSG00000183876 ENSG00000183876 HGNC:32521 ATP1A1 gene ATP1A1 Expert Review Red;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia Spasticity;HP:0001257 31705535 False 1 0;0;100 1.86 True ENSG00000163399 ENSG00000163399 HGNC:799 CCT5 gene CCT5 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia;Sensory Neuropathy with Spastic Paraplegia Spasticity;HP:0001257 16399879 False 1 0;0;100 1.86 True ENSG00000150753 ENSG00000150753 HGNC:1618 CLPP gene CLPP Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 MIM#614129 Spasticity;HP:0001257 22037954 False 1 0;0;100 1.86 True ENSG00000125656 ENSG00000125656 HGNC:2084 FOXG1 gene FOXG1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett syndrome Spasticity;HP:0001257 False 1 0;0;100 1.86 True ENSG00000176165 ENSG00000176165 HGNC:3811 GAD1 gene GAD1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 Spasticity;HP:0001257 15571623 False 1 0;0;100 1.86 True ENSG00000128683 ENSG00000128683 HGNC:4092 GRID2 gene GRID2 Expert list;Expert Review Red Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated spastic paraplegia Spasticity;HP:0001257 24122788 False 1 0;0;100 1.86 True ENSG00000152208 ENSG00000152208 HGNC:4576 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM#614926 Spasticity;HP:0001257 False 1 0;0;100 1.86 True ENSG00000112855 ENSG00000112855 HGNC:4817 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia Spasticity;HP:0001257 29362493 False 1 0;0;100 1.86 True ENSG00000006652 ENSG00000006652 HGNC:5456 KLC4 gene KLC4 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;progressive complicated spastic paraplegia Spasticity;HP:0001257 26423925 False 1 0;0;100 1.86 True ENSG00000137171 ENSG00000137171 HGNC:21624 LARS2 gene LARS2 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4 MIM#615300 Spasticity;HP:0001257 False 1 0;0;100 1.86 True ENSG00000011376 ENSG00000011376 HGNC:17095 MTPAP gene MTPAP Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672;Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive Spasticity;HP:0001257 27391121;20970105 False 1 0;0;100 1.86 True ENSG00000107951 ENSG00000107951 HGNC:25532 PGAP1 gene PGAP1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42 Spasticity;HP:0001257 24482476 False 1 0;0;100 1.86 True ENSG00000197121 ENSG00000197121 HGNC:25712 SARS2 gene SARS2 Expert Review Red;Literature Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive spastic paraplegia Spasticity;HP:0001257 27279129 False 1 0;0;100 1.86 True ENSG00000104835 ENSG00000104835 HGNC:17697 SLC19A3 gene SLC19A3 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotin-thiamine-responsive basal ganglia disease, MIM#607483 Spasticity;HP:0001257 False 1 0;0;100 1.86 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC33A1 gene SLC33A1 Expert list;Expert Review Red Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 42, autosomal dominant, MIM# 612539" Spasticity;HP:0001257 19061983;20461110 False 1 0;0;100 1.86 True ENSG00000169359 ENSG00000169359 HGNC:95 STXBP1 gene STXBP1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticity;Early infantile epileptic encephalopathy 4 Spasticity;HP:0001257 32815282 False 1 0;0;100 1.86 True ENSG00000136854 ENSG00000136854 HGNC:11444 TPP1 gene TPP1 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis neuronal 2, MIM#204500 Spasticity;HP:0001257 27217339 False 1 0;0;100 1.86 True ENSG00000166340 ENSG00000166340 HGNC:2073 TTR gene TTR Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Spasticity;HP:0001257 8960746 False 1 0;0;100 1.86 True ENSG00000118271 ENSG00000118271 HGNC:12405 WDR48 gene WDR48 Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia Spasticity;HP:0001257 24482476 False 1 0;0;100 1.86 True ENSG00000114742 ENSG00000114742 HGNC:30914 ZFR gene ZFR Expert Review Red;Royal Melbourne Hospital Hereditary Spastic Paraplegia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia Spasticity;HP:0001257 24482476 False 1 0;0;100 1.86 True ENSG00000056097 ENSG00000056097 HGNC:17277