Cataract
Gene: MIR184

MIR184 (microRNA 184)
EnsemblGeneIds (GRCh38): ENSG00000207695
EnsemblGeneIds (GRCh37): ENSG00000207695
OMIM: 613146, Gene2Phenotype
MIR184 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma. At leat 5 families reported. Three had the same variant, (+57C>T). However, it has been suggested that his arose independently rather than being a founder variant.
Created: 19 May 2022, 1:32 a.m. | Last Modified: 19 May 2022, 1:32 a.m.

Panel Version: 0.336

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EDICT syndrome, MIM# 614303

Publications

Created: 19 May 2022, 1:32 a.m.
Last Modified: 19 May 2022, 1:32 a.m.
Panel version: 0.336

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

EDICT syndrome, MIM# 614303

OMIM

613146

Clinvar variants

Variants in MIR184

Penetrance

None

Publications

Panels with this gene