Bilateral congenital or childhood onset cataracts
Gene: MIPEnsemblGeneIds (GRCh38): ENSG00000135517
EnsemblGeneIds (GRCh37): ENSG00000135517
OMIM: 154050, Gene2Phenotype
MIP is in 2 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts; Cataract 15, multiple types, 615274
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. 3 different variants reported in OMIM associated with cataract 15, multiple types.
Created: 25 Apr 2016, 8:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cataracts
- Cataract 15, multiple types, 615274
- OMIM
- 154050
- Clinvar variants
- Variants in MIP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()MIP was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()MIP was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MIP was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services