Structural eye disease

Gene: MIR204

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.

Created: 28 Sep 2023, 5:15 p.m. | Last Modified: 28 Sep 2023, 5:15 p.m.

Panel Version: 3.8

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 28 Sep 2023, 5:15 p.m. | Last Modified: 28 Sep 2023, 5:15 p.m.

Panel Version: 3.7

A MIR204 variant has been associated with Retinal dystrophy and iris coloboma with or without cataract (OMIM:616722) and as limited Gen2Phen gene for the same condition. One variant (n.37C>T) has been reported and is shown to segregate with the phenotype in two unrelated families (haplotype analysis in PMID: 37321975). PMID: 26056285 presents in vitro studies, which show that n.37C>T results in significant alterations in the targeting capabilities of miR-204. In vivo injection of n.37C>T into medaka fish (Oryzias latipes), cause a phenotype which is consistent with that observed in the family carrying the variant. Additionally, knockdown assays in medaka fish showed that miR-204 was necessary for normal photoreceptor function. The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.

Created: 28 Sep 2023, 5:13 p.m. | Last Modified: 28 Sep 2023, 5:13 p.m.

Panel Version: 3.5

Green List (high evidence)

PMID: 37321975 - same variant recently reported in a Czech family in four affected members with chorioretinal dystrophy (variably associated with iris coloboma, congenital glaucoma, and premature cataracts)

Created: 18 Sep 2023, 10:14 a.m. | Last Modified: 18 Sep 2023, 10:14 a.m.

Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal dystrophy and iris coloboma with or without cataract 616722

Publications

• 37321975

I don't know

Conte: one 5-generation pedigree, 9 members affected by bilateral iris coloboma and rod/cone dystrophy, variant fully segregates. Medaka model has microphthalmia and optic nerve coloboma

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT; 616722

Publications

• 26056285

I don't know

Promoted from red to amber based on the expert review provided.

Created: 25 Apr 2019, 10:04 a.m.

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Conte: one 5-generation pedigree, 9 members affected by bilateral iris coloboma and rod/cone dystrophy, variant fully segregates. Medaka model has microphthalmia and optic nerve coloboma

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722

Publications

• 26056285