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Retinal disorders

Gene: CTNNB1

Green List (high evidence)

CTNNB1 (catenin beta 1)
EnsemblGeneIds (GRCh38): ENSG00000168036
EnsemblGeneIds (GRCh37): ENSG00000168036
OMIM: 116806, Gene2Phenotype
CTNNB1 is in 8 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 617572
OMIM
116806
Clinvar variants
Variants in CTNNB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

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)

22 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CTNNB1 was added to Posterior segment abnormalitiespanel. Sources: Literature

17 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CTNNB1 was created by sleigh