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 ATP8A2 gene ATP8A2 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 22892528 False 2 0;100;0 1.73 False ENSG00000132932 ENSG00000132932 HGNC:13533 C16orf62 gene C16orf62 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 1.73 False ENSG00000103544 ENSG00000103544 HGNC:24641 CA8 gene CA8 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 21885617 False 2 0;0;0 1.73 False ENSG00000178538 ENSG00000178538 HGNC:1382 COASY gene COASY Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis 30089828;24360804;27021474;36495139 False 2 0;100;0 1.73 False ENSG00000068120 ENSG00000068120 HGNC:29932 DAG1 gene DAG1 Emory Genetics Laboratory;Expert Review Amber Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders congenital muscular dystrophies False 2 100;0;0 1.73 False ENSG00000173402 ENSG00000173402 HGNC:2666 DCC gene DCC Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542 28250456 False 2 0;100;0 1.73 False ENSG00000187323 ENSG00000187323 HGNC:2701 HEATR5B gene HEATR5B Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 50;50;0 1.73 False ENSG00000008869 ENSG00000008869 HGNC:29273 PHGDH gene PHGDH Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1, 256520 24836451 False 2 0;100;0 1.73 False ENSG00000092621 ENSG00000092621 HGNC:8923 TERT gene TERT Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 17785587;34890115 False 2 0;100;0 1.73 False ENSG00000164362 ENSG00000164362 HGNC:11730 TSEN15 gene TSEN15 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 27392077;25558065 False 2 0;0;0 1.73 False ENSG00000198860 ENSG00000198860 HGNC:16791 TUBA8 gene TUBA8 Emory Genetics Laboratory;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia, 613180 19896110, 27781032 False 2 100;0;0 1.73 False ENSG00000183785 ENSG00000183785 HGNC:12410 VPS53 gene VPS53 Expert Review Amber;Literature;Other;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 2E;Pontocerebellar Hypoplasia PMID: 24577744 False 2 0;100;0 1.73 False ENSG00000141252 ENSG00000141252 HGNC:25608