Bilateral congenital or childhood onset cataracts
Gene: BFSP2EnsemblGeneIds (GRCh38): ENSG00000170819
EnsemblGeneIds (GRCh37): ENSG00000170819
OMIM: 603212, Gene2Phenotype
BFSP2 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts; Cataract 12, multiple types, 611597
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
On the Manchester congenital cataracts gene panel. Confirmed DD gene for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED (ADC-BFSP2).
Created: 22 Apr 2016, 4:52 p.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
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cataracts
- Cataract 12, multiple types, 611597
- OMIM
- 603212
- Clinvar variants
- Variants in BFSP2
- 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 ()BFSP2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()BFSP2 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()BFSP2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services