Cataracts

Gene: BFSP1

Green List (high evidence)

BFSP1 (beaded filament structural protein 1)
EnsemblGeneIds (GRCh38): ENSG00000125864
EnsemblGeneIds (GRCh37): ENSG00000125864
OMIM: 603307, Gene2Phenotype
BFSP1 is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mutation reported by Wang et al (2013) also seen in our Manchester lab in patient with cataracts. Not on Exac. Located in tail region of the protein which is important for beaded filament formation, not on Exac. Knocokout mouse model for this protein has been. Mutations in related BFSP2 reported in patients with cataracts. Evidence together satisfies criteria C, D and E.
Created: 25 May 2016, 8:10 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 33, 611391

Publications

  • Wang et al (2013) Mol Vis 19:2590-2595
  • Ramachandran et al (2007) Hum Genet 121(3-4):475-82
  • Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on mode of inheritance: As indicated by review.
Created: 25 May 2016, 9:42 a.m.
Comment on list classification: Promoted to green due to expert review.
Created: 25 May 2016, 9:42 a.m.
Is on the Manchester congenital cataracts gene panel. In OMIM, a single report of a large consanguineous Indian family.
Created: 25 Apr 2016, 8:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cataract 33, 611391
OMIM
603307
Clinvar variants
Variants in BFSP1
Penetrance
Complete
Publications
  • Wang et al (2013) Mol Vis 19:2590-2595
  • Ramachandran et al (2007) Hum Genet 121(3-4):475-82
  • Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7
Panels with this gene

History Filter Activity

25 May 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).

25 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BFSP1 were set to Wang et al (2013) Mol Vis 19:2590-2595; Ramachandran et al (2007) Hum Genet 121(3-4):475-82; Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7

25 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BFSP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 May 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: 2

Added New Source

GEL ()

BFSP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BFSP1 was added to Cataractspanel. Sources: UKGTN