Genomics England
GMS Panels
Panels
Genes and Entities

ATOH7

atonal bHLH transcription factor 7
OMIM: 609875
PanelMode of inheritanceDetails
2 panels
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive, 221900, multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment, Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900