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  2. Anophthalmia_Microphthalmia_Coloboma
  3. RARB
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Anophthalmia_Microphthalmia_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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with microphthalmia and diaphragmatic hernia. Long-term survivors have ID. Some evidence for GoF for heterozygous missense variants.
Created: 28 Dec 2020, 3:31 a.m. | Last Modified: 28 Dec 2020, 3:31 a.m.
Panel Version: 0.133

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 12, MIM# 615524

Publications

Mode of pathogenicity
Other

Created: 28 Dec 2020, 3:31 a.m.
Last Modified: 28 Dec 2020, 3:31 a.m.
Panel version: 0.133

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 12, MIM# 615524
OMIM
180220
Clinvar variants
Variants in RARB
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rarb has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RARB were set to

28 Dec 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: RARB was changed from to Other

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RARB was added gene: RARB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RARB was set to Unknown