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 ATOH1 gene ATOH1 Expert Review;Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related 35518571 False 2 0;100;0 1.80 True ENSG00000172238 ENSG00000172238 HGNC:797 AUTS2 gene AUTS2 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 17211639;27075013;22872102;31474318 False 2 0;100;0 1.80 True ENSG00000158321 ENSG00000158321 HGNC:14262 CDK5 gene CDK5 Expert list;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342" 25560765;32273484;32097629;28854363;7490100 False 2 0;100;0 1.80 True ENSG00000164885 ENSG00000164885 HGNC:1774 CEP55 gene CEP55 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500 28264986;32100459;28295209 False 2 0;100;0 1.80 True ENSG00000138180 ENSG00000138180 HGNC:1161 DDX3X gene DDX3X Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders Other Mental retardation, X-linked 102, MIM# 300958 26235985;30936465 False 2 0;100;0 1.80 True ENSG00000215301 ENSG00000215301 HGNC:2745 FKTN gene FKTN Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Walker-Warburg syndrome" PMID: 17878207;25821721;19342235;18177472;12601708 False 2 0;100;0 1.80 True ENSG00000106692 ENSG00000106692 HGNC:3622 HEATR5B gene HEATR5B Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures 33824466 False 2 0;100;0 1.80 True ENSG00000008869 ENSG00000008869 HGNC:29273 KAT5 gene KAT5 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103;Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face 32822602 False 2 0;100;0 1.80 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172977 ENSG00000172977 HGNC:5275 KCNC3 gene KCNC3 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM# 605259 16501573;25497598;25981959 False 2 0;100;0 1.80 True ENSG00000131398 ENSG00000131398 HGNC:6235 MFN2 gene MFN2 Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MFN2-related PMID: 37804319 False 2 0;100;0 1.80 True ENSG00000116688 ENSG00000116688 HGNC:16877 PCLO gene PCLO Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 25832664 False 2 0;100;0 1.80 True ENSG00000186472 ENSG00000186472 HGNC:13406 RAB11B gene RAB11B Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807) 29106825 False 2 0;100;0 1.80 True ENSG00000185236 ENSG00000185236 HGNC:9761 SETD2 gene SETD2 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome (MIM#616831) 31643139;31474318;26084711 False 2 0;100;0 1.80 True ENSG00000181555 ENSG00000181555 HGNC:18420 TBCK gene TBCK Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900) 27040692;30103036;27040691 False 2 0;100;0 1.80 True ENSG00000145348 ENSG00000145348 HGNC:28261 TERT gene TERT Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989) 17785587 False 2 0;100;0 1.80 True ENSG00000164362 ENSG00000164362 HGNC:11730 TRIP4 gene TRIP4 Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. PMID: 34075209 False 2 0;100;0 1.80 True ENSG00000103671 ENSG00000103671 HGNC:12310 TUBB gene TUBB Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771) 23246003 False 2 0;100;0 1.80 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2B gene TUBB2B Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 19465910 False 2 0;100;0 1.80 True ENSG00000137285 ENSG00000137285 HGNC:30829 VPS51 gene VPS51 Expert list;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" 30624672;31207318 False 2 0;100;0 1.80 True ENSG00000149823 ENSG00000149823 HGNC:1172