Retinal disorders
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, 5:16 p.m. | Last Modified: 28 Sep 2023, 5:16 p.m.
Panel Version: 4.28
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: 4.27
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: 4.26
PMID: 26056285 reported a five generation pedigree with 9 members with bilateral iris coloboma and rod/cone dystrophy. Variant (n.37C>T) found in 6 of the affected relatives and fully segregates. Medaka model caused a phenotype consistent with that observed in the family, including photoreceptor alterations with reduced numbers of both cones and rods as a result of increased apoptosis
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, 10:17 a.m. | Last Modified: 18 Sep 2023, 10:17 a.m.
Panel Version: 4.24
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinal dystrophy and iris coloboma with or without cataract
Publications
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Mode of inheritance for gene: MIR204 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Phenotypes for gene: MIR204 were changed from to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Publications for gene: MIR204 were set to
gene: MIR204 was added gene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: MIR204 was set to