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 ATP2B3 gene ATP2B3 Expert Review Amber;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinocerebellar ataxia, X-linked 1, MIM#302500 Developmental regression;HP:0002376 22912398;27653636;27632770 False 2 0;100;0 0.572 True ENSG00000067842 ENSG00000067842 HGNC:816 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX4I1 gene COX4I1 Expert list;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Developmental regression;HP:0002376 28766551;22592081;31290619 False 2 0;100;0 0.572 True ENSG00000131143 ENSG00000131143 HGNC:2265 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 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 0.572 True ENSG00000144736 ENSG00000144736 HGNC:25543 SLC31A1 gene SLC31A1 Expert Review;Expert Review Amber Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Developmental regression;HP:0002376 35913762;36562171 False 2 0;100;0 0.572 True ENSG00000136868 ENSG00000136868 HGNC:11016 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 0.572 True ENSG00000106089 ENSG00000106089 HGNC:11433 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 0.572 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 0.572 True ENSG00000172465 ENSG00000172465 HGNC:11616 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 0.572 True ENSG00000171307 ENSG00000171307 HGNC:20714