Corneal dystrophy
Gene: MIR184EnsemblGeneIds (GRCh38): ENSG00000207695
EnsemblGeneIds (GRCh37): ENSG00000207695
OMIM: 613146, Gene2Phenotype
MIR184 is in 5 panels
3 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:23 a.m. | Last Modified: 8 Mar 2022, 9:23 a.m.
Panel Version: 1.10
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Wessex and West Midlands GLH
- Phenotypes
-
- EDICT syndrome OMIM:614303, MONDO:0013678
- Tags
- OMIM
- 613146
- Clinvar variants
- Variants in MIR184
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-micro tag was added to gene: MIR184.
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MIR184.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to MIR184. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MIR184.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MIR184 were changed from EDICT syndrome 614303 to EDICT syndrome OMIM:614303, MONDO:0013678
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