Congenital diaphragmatic hernia
Gene: RARBEnsemblGeneIds (GRCh38): ENSG00000077092
EnsemblGeneIds (GRCh37): ENSG00000077092
OMIM: 180220, Gene2Phenotype
RARB is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Both mono allelic and bi-allelic variants associated with bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia.
Sources: Expert listCreated: 14 Nov 2020, 3:47 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 12, MIM# 615524
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Microphthalmia, syndromic 12, MIM# 615524
- OMIM
- 180220
- Clinvar variants
- Variants in RARB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rarb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rarb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RARB was added gene: RARB was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24075189; 22686418 Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM# 615524 Review for gene: RARB was set to GREEN