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 CACNB4 gene CACNB4 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 Developmental regression;HP:0002376 10762541;9628818;27003325 False 2 0;100;0 1.0 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAPRIN1 gene CAPRIN1 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Developmental regression;HP:0002376 36136249 False 2 0;100;0 1.0 True ENSG00000135387 ENSG00000135387 HGNC:6743 CCDC88C gene CCDC88C Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 40, MIM#616053 Developmental regression;HP:0002376 25062847;30398676 False 2 0;100;0 1.0 True ENSG00000015133 ENSG00000015133 HGNC:19967 CHMP3 gene CHMP3 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Developmental regression;HP:0002376 PMID: 35710109 False 2 0;100;0 1.0 True ENSG00000115561 ENSG00000115561 HGNC:29865 COX14 gene COX14 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Developmental regression;HP:0002376 22243966 False 2 0;100;0 1.0 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX6B1 gene COX6B1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Developmental regression;HP:0002376 18499082;24781756 False 2 0;100;0 1.0 True ENSG00000126267 ENSG00000126267 HGNC:2280 CRAT gene CRAT Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Developmental regression;HP:0002376 29395073;31448845 False 2 0;100;0 1.0 True ENSG00000095321 ENSG00000095321 HGNC:2342 FBP2 gene FBP2 Expert list;Expert Review Amber Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, childhood-onset, remitting, MIM# 619864 Developmental regression;HP:0002376 33977262 False 2 0;100;0 1.0 True ENSG00000130957 ENSG00000130957 HGNC:3607 MTPAP gene MTPAP Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perinatal lethal encephalopathy;Spastic ataxia 4, autosomal recessive, MIM#613672 Developmental regression;HP:0002376 31779033 False 2 0;100;0 1.0 True ENSG00000107951 ENSG00000107951 HGNC:25532 NDUFA9 gene NDUFA9 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247 Developmental regression;HP:0002376 26425749;28671271;22114105 False 2 50;50;0 1.0 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Developmental regression;HP:0002376 17557076;21931170;16218961;24963768;34975718 False 2 50;50;0 1.0 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF4 gene NDUFAF4 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Developmental regression;HP:0002376 32949790;28853723;18179882 False 2 0;100;0 1.0 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFS6 gene NDUFS6 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Developmental regression;HP:0002376 15372108;19259137;30948790;27290639;28429146 False 2 0;100;0 1.0 True ENSG00000145494 ENSG00000145494 HGNC:7713 NUP62 gene NUP62 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile, MIM#271930 Developmental regression;HP:0002376 16786527 False 2 50;50;0 1.0 True ENSG00000213024 ENSG00000213024 HGNC:8066 RPIA gene RPIA Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal RPIA (ribose 5-phosphate isomerase A) Developmental regression;HP:0002376 14988808;10589548;20499043;28801340;30088433 False 2 0;100;0 1.0 True ENSG00000153574 ENSG00000153574 HGNC:10297 SHQ1 gene SHQ1 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Developmental regression;HP:0002376 34542157;29178645 False 2 0;100;0 1.0 True ENSG00000144736 ENSG00000144736 HGNC:25543 SIDT2 gene SIDT2 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysosomal storage disease, MONDO:0002561, SIDT2-related Developmental regression;HP:0002376 PMID: 40541391 False 2 0;100;0 1.0 True ENSG00000149577 ENSG00000149577 HGNC:24272 SLC7A2 gene SLC7A2 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046, SLC7A2-related Developmental regression;HP:0002376 41015522 False 2 0;100;0 1.0 True ENSG00000003989 ENSG00000003989 HGNC:11060 STX1A gene STX1A Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#0700092, STX1A-related Developmental regression;HP:0002376 False 2 0;100;0 1.0 True ENSG00000106089 ENSG00000106089 HGNC:11433 SUPV3L1 gene SUPV3L1 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Developmental regression;HP:0002376 39596606;35023579 False 2 0;100;0 1.0 True ENSG00000156502 ENSG00000156502 HGNC:11471 TACO1 gene TACO1 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Developmental regression;HP:0002376 19503089;20727754;25044680;27319982 False 2 0;100;0 1.0 True ENSG00000136463 ENSG00000136463 HGNC:24316 TCEAL1 gene TCEAL1 Expert Review Amber;Literature Regression 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) Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Developmental regression;HP:0002376 PMID: 36368327 False 2 0;100;0 1.0 True ENSG00000172465 ENSG00000172465 HGNC:11616 TNK2 gene TNK2 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal late onset infantile epilepsy;Mayer-Rokitansky-K ster-Hauser syndrome Developmental regression;HP:0002376 27977884;23686771;31517310 False 2 0;100;0 1.0 False ENSG00000061938 ENSG00000061938 HGNC:19297 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Developmental regression;HP:0002376 39313616 False 2 0;100;0 1.0 True ENSG00000171307 ENSG00000171307 HGNC:20714