Retinal disorders
Gene: CTNNB1EnsemblGeneIds (GRCh38): ENSG00000168036
EnsemblGeneIds (GRCh37): ENSG00000168036
OMIM: 116806, Gene2Phenotype
CTNNB1 is in 7 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 4 variants reported, 2 in two dominant FEVR-affected families (PMID 28575650) and 2 in isolated cases. (PMID 28575650 & 28514307)Created: 17 Aug 2017, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Exudative vitreoretinopathy 7 617572
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Exudative vitreoretinopathy 7, OMIM:617572
- OMIM
- 116806
- Clinvar variants
- Variants in CTNNB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CTNNB1 were changed from Exudative vitreoretinopathy 7 617572 to Exudative vitreoretinopathy 7, OMIM:617572
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CTNNB1 were set to 28575650; 28514307
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CTNNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)CTNNB1 was added to Posterior segment abnormalitiespanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)CTNNB1 was created by sleigh