1. Panels
  2. Anophthalmia_Microphthalmia_Coloboma
  3. RARA
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Anophthalmia_Microphthalmia_Coloboma

Gene: RARA

Red List (low evidence)
RARA (retinoic acid receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000131759
EnsemblGeneIds (GRCh37): ENSG00000131759
OMIM: 180240, Gene2Phenotype
RARA is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report of de novo missense variant in association with syndromic coloboma.
Sources: Literature
Created: 28 Dec 2020, 3:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic chorioretinal coloboma

Publications

Created: 28 Dec 2020, 3:40 a.m.

Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic chorioretinal coloboma
OMIM
180240
Clinvar variants
Variants in RARA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rara has been classified as Red List (Low Evidence).

28 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RARA was added gene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RARA were set to 31343737 Phenotypes for gene: RARA were set to Syndromic chorioretinal coloboma Review for gene: RARA was set to RED