ATOH1

atonal bHLH transcription factor 1
OMIM: 601461, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber ATOH1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Deafness, autosomal dominant 89 , OMIM:620284 hearing loss, autosomal dominant 89, MONDO:0859528 pontocerebellar hypoplasia, MONDO:0020135 Tags Q1_26_promote_green
Amber ATOH1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert Phenotypes ?Deafness, autosomal dominant 89 , OMIM:620284 hearing loss, autosomal dominant 89, MONDO:0859528 pontocerebellar hypoplasia, MONDO:0020135 Tags Q1_26_promote_green
Amber ATOH1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Deafness, autosomal dominant 89 , OMIM:620284 hearing loss, autosomal dominant 89, MONDO:0859528 pontocerebellar hypoplasia, MONDO:0020135 Tags Q1_26_promote_green