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 ARSI gene ARSI Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;0;100 9.1 False ENSG00000183876 ENSG00000183876 HGNC:32521 CCT5 gene CCT5 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy with Spastic Paraplegia;Neuropathy, hereditary sensory, with spastic paraplegia 16399879 False 1 0;0;100 9.1 False ENSG00000150753 ENSG00000150753 HGNC:1618 CDK16 gene CDK16 Expert Review Red;Literature;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 Intellectual disability and spastic paraplegia, x-linked 25644381;26350204 False 1 0;33;67 9.1 False ENSG00000102225 ENSG00000102225 HGNC:8749 CHMP3 gene CHMP3 Expert Review Red;Literature Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 9.1 False ENSG00000115561 ENSG00000115561 HGNC:29865 KLC2 gene KLC2 Expert list;Expert Review Red Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541 19344448 False 1 100;0;0 9.1 False ENSG00000174996 ENSG00000174996 HGNC:20716 KLC4 gene KLC4 Expert Review Red;Literature;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;0;100 9.1 False ENSG00000137171 ENSG00000137171 HGNC:21624 MARS gene MARS Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;0;100 9.1 False ENSG00000166986 ENSG00000166986 HGNC:6898 PCDH12 gene PCDH12 Expert Review;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;perithalamic hyperechogenicity;midbrain abnormalities;intellectual disability;epilepsy;periventricular hyperechogenicity;hypothalamic abnormalities 27164683;29556033 False 1 0;0;100 9.1 False ENSG00000113555 ENSG00000113555 HGNC:8657 PGAP1 gene PGAP1 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;0;100 9.1 False ENSG00000197121 ENSG00000197121 HGNC:25712 PSEN1 gene PSEN1 Expert Review Red;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 Alzheimer disease, type 3, with spastic paraparesis and apraxia;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques False 1 33;33;33 9.1 False ENSG00000080815 ENSG00000080815 HGNC:9508 SLC33A1 gene SLC33A1 Expert list;Expert Review Red;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 Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR;Spastic paraplegia 42, autosomal dominant Lin et al. (2008);19061983;25402622 False 1 33;33;33 9.1 False ENSG00000169359 ENSG00000169359 HGNC:95 USP8 gene USP8 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014);24482476 False 1 0;0;100 9.1 False ENSG00000138592 ENSG00000138592 HGNC:12631 WASHC5 gene WASHC5 Expert list;Expert Review Red;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 8, autosomal dominant, OMIM:603563 17160902;23455931;26572744;31814071;33662919 False 1 29;29;43 9.1 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZEB2 gene ZEB2 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Childhood onset hereditary spastic paraplegia Neurology False 1 0;0;100 9.1 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFYVE27 gene ZFYVE27 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;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 paraplegia 33, autosomal dominant Mannan AU (2006);16826525;22554690;29980238 False 1 0;0;100 9.1 False ENSG00000155256 ENSG00000155256 HGNC:26559