1. Panels
  2. Anophthalmia or microphthalmia
  3. RARB
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia or microphthalmia

Gene: RARB

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit evidence
Created: 10 May 2016, 12:14 p.m.
Created: 10 May 2016, 12:14 p.m.

Panel version: 0.38

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

RARB - Monoallelic - Missense Dominant Negative, RARB - Biallelic - Loss Of Function
Created: 8 Dec 2015, 1:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 1:30 p.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 12, 615524
OMIM
180220
Clinvar variants
Variants in RARB
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for RARB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RARB was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen