Structural eye disease
Gene: MIR204
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
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
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 colobomaCreated: 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
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 colobomaCreated: 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
Tag locus-type-rna-micro tag was added to gene: MIR204. Tag Q3_23_NHS_review tag was added to gene: MIR204.
Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: mir204 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: MIR204.
Publications for gene: MIR204 were set to 26056285
Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722 to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Source Expert Review Amber was added to MIR204. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722; RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 to Retinal dystrophy and iris coloboma with or without cataract 616722
Source NHS GMS was added to MIR204. Added phenotypes RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 for gene: MIR204
gene: MIR204 was added gene: MIR204 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract 616722