ATOH1

atonal bHLH transcription factor 1
OMIM: 601461, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ATOH1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related

Amber ATOH1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related