Fetal anomalies
Gene: RARB

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.

DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA and Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as Dominant negative for monoallelic MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, and listed as LOF for biallelic MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.153

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA

OMIM

180220

Clinvar variants

Variants in RARB

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RARB was added gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA

Fetal anomalies Gene: RARB