Bilateral congenital or childhood onset cataracts
Gene: MIR184
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
Keratoconus with cataractCreated: 25 May 2016, 8:11 a.m.
Phenotypes
EDICT
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for MIR184 were set to EDICT
Publications for MIR184 were set to 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
Mode of inheritance for MIR184 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MIR184 was added to Cataractspanel. Sources: UKGTN