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Mendeliome

Gene: MIR204

Amber List (moderate evidence)

MIR204 (microRNA 204)
EnsemblGeneIds (GRCh38): ENSG00000207935
EnsemblGeneIds (GRCh37): ENSG00000207935
OMIM: 610942, Gene2Phenotype
MIR204 is in 3 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26056285
- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.
- Heterozygous n.37C>T segregates with the disease in all affected individuals.
- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family.
- Authors suggested gain of function is the likely disease mechanism.

PMID: 37321975
- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.
- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.
- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.
- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant.
Sources: Literature
Created: 6 Jul 2023, 2:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Tags
non-coding gene
OMIM
610942
Clinvar variants
Variants in MIR204
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: MIR204.

6 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mir204 has been classified as Amber List (Moderate Evidence).

6 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mir204 has been classified as Amber List (Moderate Evidence).

6 Jul 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mir204 has been removed from the panel.

6 Jul 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Chern Lim (Victorian Clinical Genetics Services)

gene: MIR204 was added gene: MIR204 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285; 37321975 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Mode of pathogenicity for gene: MIR204 was set to Other Review for gene: MIR204 was set to GREEN gene: MIR204 was marked as current diagnostic