Retinal disordersGene: RCBTB1
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.
PMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.
PMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Created: 3 Apr 2019, 9:45 a.m.
Comment when marking as ready: New publication, only 2 families, both showing reduced penetrance. Await further evidence.
Created: 17 Jun 2016, 2:07 p.m.
Source NHS GMS was added to RCBTB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: rcbtb1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RCBTB1 were set to 26908610
Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175
Publications for gene: RCBTB1 were set to PMID: 26908610
This gene has been classified as Red List (Low Evidence).
RCBTB1 was added to Posterior segment abnormalitiespanel. Sources: Expert list
RCBTB1 was created by ellenmcdonagh