Retinal disorders
Gene: RCBTB1EnsemblGeneIds (GRCh38): ENSG00000136144
EnsemblGeneIds (GRCh37): ENSG00000136144
OMIM: 607867, Gene2Phenotype
RCBTB1 is in 2 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Coppetiers 2016Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Ivone Leong (Genomics England Curator)
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.
Ellen Thomas (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Familial exudative vitreoretinopathy
- Coats disease
- Retinal dystrophy with or without extraocular anomalies, OMIM:617175
- OMIM
- 607867
- Clinvar variants
- Variants in RCBTB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175 to Familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, OMIM:617175
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RCBTB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rcbtb1 has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RCBTB1 were set to 26908610
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RCBTB1 were set to PMID: 26908610
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RCBTB1 was added to Posterior segment abnormalitiespanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)RCBTB1 was created by ellenmcdonagh