Bilateral congenital or childhood onset cataracts
Gene: MIR184

MIR184 (microRNA 184)
EnsemblGeneIds (GRCh38): ENSG00000207695
EnsemblGeneIds (GRCh37): ENSG00000207695
OMIM: 613146, Gene2Phenotype
MIR184 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:50 p.m.

Comment on list classification: Was discussed internally and decided that this should be included as green due to the evidence. MiRNA genes are currently not included in the Genomics England analysis pipeline at this stage.
Created: 6 Jun 2016, 12:01 p.m.

Is on the Manchester congenital cataracts gene panel. This is a micro RNA. It is a possible DD gene for KERATOCONUS WITH CATARACT; EDICT SYNDROME, with an uncertain mutation consequence sumamry.
Created: 29 Apr 2016, 12:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 6 Jan 2017, 3:50 p.m.

Panel version: 1.0

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Keratoconus with cataract
Created: 25 May 2016, 8:11 a.m.

Phenotypes
EDICT

Publications

Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372
Hughes et al (2013) IOVS 54:5266
iliff et al (2012) IOVS 53:348-353

Created: 25 May 2016, 8:11 a.m.

Panel version: 0.124

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN

Phenotypes

EDICT

Tags

locus-type-rna-micro

OMIM

613146

Clinvar variants

Variants in MIR184

Penetrance

Complete

Publications

Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372
Hughes et al (2013) IOVS 54:5266
iliff et al (2012) IOVS 53:348-353

Panels with this gene