Anophthalmia_Microphthalmia_Coloboma
Gene: RERE

RERE (arginine-glutamic acid dipeptide repeats)
EnsemblGeneIds (GRCh38): ENSG00000142599
EnsemblGeneIds (GRCh37): ENSG00000142599
OMIM: 605226, Gene2Phenotype
RERE is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with developmental delay, intellectual disability, and behavioural disorders, such as autism. About half of affected individuals have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. Microphthalmia, coloboma and blepharophimosis reported.
Created: 28 Dec 2020, 5:21 a.m. | Last Modified: 28 Dec 2020, 5:21 a.m.

Panel Version: 0.141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

Publications

Created: 28 Dec 2020, 5:21 a.m.
Last Modified: 28 Dec 2020, 5:21 a.m.
Panel version: 0.141

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975

OMIM

605226

Clinvar variants

Variants in RERE

Penetrance

None

Publications

Panels with this gene