Bilateral congenital or childhood onset cataracts
Gene: CHMP4BEnsemblGeneIds (GRCh38): ENSG00000101421
EnsemblGeneIds (GRCh37): ENSG00000101421
OMIM: 610897, Gene2Phenotype
CHMP4B is in 2 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 31, multiple types, 605387
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. Two unrelated families with different variants reported in OMIM associated with cataract 31, multiple types and cataract 31, posterior polar.Created: 25 Apr 2016, 8:58 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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Cataract 31, multiple types, 605387
- OMIM
- 610897
- Clinvar variants
- Variants in CHMP4B
- 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).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHMP4B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 ()CHMP4B was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CHMP4B was added to Cataractspanel. Sources: UKGTN