Retinal disorders
Gene: CTNND1
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:45 p.m. | Last Modified: 2 May 2024, 1:45 p.m.
Panel Version: 5.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene to familial exudative vitreoretinopathy. Hence, this gene can be promoted to green rating in the next GMS update.Created: 14 Oct 2023, 9:14 a.m. | Last Modified: 14 Oct 2023, 9:14 a.m.
Panel Version: 4.36
Of 140 probands of familial exudative vitreoretinopathy (FEVR) families that had whole exome sequencing, three patients were reported with three different heterozygous variants in CTNND1 gene. In addition, inducible deletion of Ctnnd1 in the postnatal mouse endothelial cells (ECs) exhibited typical phenotypes of FEVR with reactive gliosis.
This gene has not yet been associated with this FEVR phenotype either in OMIM or in Gene2Phenotype.
Sources: LiteratureCreated: 14 Oct 2023, 9:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
exudative vitreoretinopathy, MONDO:0019516
Publications
Tag Q4_23_promote_green was removed from gene: CTNND1.
Source NHS GMS was added to CTNND1. Source Expert Review Green was added to CTNND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: CTNND1.
gene: CTNND1 was added gene: CTNND1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTNND1 were set to 35700046 Phenotypes for gene: CTNND1 were set to exudative vitreoretinopathy, MONDO:0019516 Review for gene: CTNND1 was set to GREEN