Ocular coloboma
Gene: RARB

RARB (retinoic acid receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000077092
EnsemblGeneIds (GRCh37): ENSG00000077092
OMIM: 180220, Gene2Phenotype
RARB is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as biallelic variants also cause disease.
Created: 18 Mar 2022, 2:02 p.m. | Last Modified: 18 Mar 2022, 2:02 p.m.

Panel Version: 1.46

Created: 18 Mar 2022, 2:02 p.m.
Last Modified: 18 Mar 2022, 2:02 p.m.
Panel version: 1.46

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Promoted to green after expert review
Created: 2 Feb 2017, 11:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 12 615524

Publications

24859618

Created: 16 Nov 2016, 12:35 p.m.

Panel version: 0.11

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Microphthalmia, syndromic 12 615524

OMIM

180220

Clinvar variants

Variants in RARB

Penetrance

Complete

Publications

24859618

Panels with this gene

History Filter Activity

18 Mar 2022, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RARB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Feb 2017, Gel status: 4