Corneal dystrophies

Gene: MIR184

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

This gene should be reviewed by the GMS specialist group at the next review.
Created: 4 Dec 2020, 4:05 p.m. | Last Modified: 4 Dec 2020, 4:05 p.m.
Panel Version: 1.4

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Primarily anterior dysgenesis syndrome, corneal thinning rather than dystrophy.
Created: 27 Jul 2020, 8:51 a.m. | Last Modified: 27 Jul 2020, 8:51 a.m.
Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EDICT syndrome, MIM# 614303

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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 Green
  • Wessex and West Midlands GLH
Phenotypes
  • EDICT syndrome OMIM:614303, MONDO:0013678
Tags
for-review
OMIM
613146
Clinvar variants
Variants in MIR184
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: MIR184.

4 Dec 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MIR184 were changed from EDICT syndrome 614303 to EDICT syndrome OMIM:614303, MONDO:0013678

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MIR184 was added gene: MIR184 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR184 were set to 25157590; 21996275; 24138095 Phenotypes for gene: MIR184 were set to EDICT syndrome 614303