Cerebellar and Pontocerebellar Hypoplasia
Gene: ATOH1EnsemblGeneIds (GRCh38): ENSG00000172238
EnsemblGeneIds (GRCh37): ENSG00000172238
OMIM: 601461, Gene2Phenotype
ATOH1 is in 2 panels
1 review
Chloe Stutterd (Victorian Clinical Genetics Services)
Single report of novel homozygous variant in functional domain in two affected siblings with pontocerebellar hypoplasia, developmental delay and hearing loss. Similar phenotype previously reported in animal model with bi-allelic missense variant in same functional domain.
Sources: Literature, Expert ReviewCreated: 2 Jun 2022, 1:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related
- OMIM
- 601461
- Clinvar variants
- Variants in ATOH1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chloe Stutterd (Victorian Clinical Genetics Services)gene: ATOH1 was added gene: ATOH1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature,Expert Review Mode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATOH1 were set to 35518571 Phenotypes for gene: ATOH1 were set to Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related Penetrance for gene: ATOH1 were set to unknown Review for gene: ATOH1 was set to AMBER