Ocular coloboma

Gene: RARB

Green List (high evidence)

RARB (retinoic acid receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000077092
EnsemblGeneIds (GRCh37): ENSG00000077092
OMIM: 180220, Gene2Phenotype
RARB is in 9 panels

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for RARB were set to 24859618

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RARB was created by agardham

16 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

RARB was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen