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Cataracts

Gene: MIR184

Green List (high evidence)

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

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

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

History Filter Activity

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MIR184 were set to EDICT

6 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

6 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MIR184 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MIR184 was added to Cataractspanel. Sources: UKGTN