Retinal disorders
Gene: ATOH7EnsemblGeneIds (GRCh38): ENSG00000179774
EnsemblGeneIds (GRCh37): ENSG00000179774
OMIM: 609875, Gene2Phenotype
ATOH7 is in 4 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Multiple families with recessive vitreoretinopathy.Created: 17 Jun 2016, 2:11 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- 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
- OMIM
- 609875
- Clinvar variants
- Variants in ATOH7
- Penetrance
- Complete
- Publications
-
- PMID: 22068589
- PMID: 22068589
- PMID: 26933893
- PMID: 24689660
- PMID: 24457358
- PMID: 23802135 - not associated with optic nerve hypoplasia
- PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous "Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"
- PMID: 22584021
- PMID: 21441919
- PMID: 21398277
- PMID: 21427129
- PMID: 21307088
- PMID: 20395239
- PMID: 11889557
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ATOH7 were changed from Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus to 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
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ATOH7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358; PMID: 23802135 - not associated with optic nerve hypoplasia; PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous "Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"; PMID: 22584021; PMID: 21441919; PMID: 21398277; PMID: 21427129; PMID: 21307088; PMID: 20395239; PMID: 11889557
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358; PMID: 23802135 - not associated with optic nerve hypoplasia; PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous "Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"; PMID: 22584021; PMID: 21441919; PMID: 21398277; PMID: 21427129; PMID: 21307088; PMID: 20395239
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Added New Source
Ellen McDonagh (Genomics England Curator)ATOH7 was added to Posterior segment abnormalitiespanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ATOH7 was created by ellenmcdonagh