Cataracts

Gene: BFSP2

Green List (high evidence)

BFSP2 (beaded filament structural protein 2)
EnsemblGeneIds (GRCh38): ENSG00000170819
EnsemblGeneIds (GRCh37): ENSG00000170819
OMIM: 603212, Gene2Phenotype
BFSP2 is in 6 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

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

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BFSP2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BFSP2 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BFSP2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services