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| Retinal disorders v5.3 | CTNND1 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CTNND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.3 | CTNND1 |
Arina Puzriakova 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) |
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| Retinal disorders v5.2 | CTNND1 | Arina Puzriakova reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.36 | CTNND1 | Achchuthan Shanmugasundram Classified gene: CTNND1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.36 | CTNND1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.36 | CTNND1 | Achchuthan Shanmugasundram Gene: ctnnd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.35 | CTNND1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CTNND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.35 | CTNND1 |
Achchuthan Shanmugasundram 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 Added comment: 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: Literature |
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