Cataracts

Gene: FLNB

Red List (low evidence)

FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 9 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Lens opacities and retinal abnormalities detecred in 2 patients with sponylocarpotarsal synotosis, variable within the families.
Created: 25 May 2016, 8:10 a.m.

Publications

  • Steiner et al (2000) Am J Med Genet 91:131-134

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Added to the red list due to expert review.
Created: 31 May 2016, 9:34 a.m.
Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME which includes a cataract phenotype and associated on OMIM with several variant reports.
Created: 29 Apr 2016, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
OMIM
603381
Clinvar variants
Variants in FLNB
Penetrance
Complete
Publications
  • Steiner et al (2000) Am J Med Genet 91:131-134
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FLNB were set to Steiner et al (2000) Am J Med Genet 91:131-134

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FLNB was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FLNB was added to Cataractspanel. Sources: UKGTN