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  2. Structural eye disease
  3. RARB
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Structural eye disease

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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Srour et al. 2016 summarised all 13 de novo cases published so far. Monoallelic missense variants are GAIN-OF-FUNCTION
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 12, 615524

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Srour et al. 2016 summarised all 13 de novo cases published so far. Monoallelic missense variants are GAIN-OF-FUNCTION
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 12, 615524

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, syndromic 12, 615524
OMIM
180220
Clinvar variants
Variants in RARB
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RARB. Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RARB was added gene: RARB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24859618 Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524