Ocular coloboma
Gene: MIR204EnsemblGeneIds (GRCh38): ENSG00000207935
EnsemblGeneIds (GRCh37): ENSG00000207935
OMIM: 610942, Gene2Phenotype
MIR204 is in 3 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 3:52 p.m.
Alice Gardham (Genomics England)
Identified in six affected individuals from one familyCreated: 17 Nov 2016, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinal dystrophy and iris coloboma with or without cataract 616722
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- Retinal dystrophy and iris coloboma with or without cataract 616722
- Tags
- OMIM
- 610942
- Clinvar variants
- Variants in MIR204
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Added New Source
Alice Gardham (Genomics England)MIR204 was added to Ocular colobomapanel. Sources: Literature
Created
Alice Gardham (Genomics England)MIR204 was created by agardham