Structural eye disease
Gene: BFSP2

BFSP2 (beaded filament structural protein 2)
EnsemblGeneIds (GRCh38): ENSG00000170819
EnsemblGeneIds (GRCh37): ENSG00000170819
OMIM: 603212, Gene2Phenotype
BFSP2 is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

cataract gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 12, multiple types; 611597

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 12, multiple types; 611597

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

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Cataract 12, multiple types, 611597

OMIM

603212

Clinvar variants

Variants in BFSP2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: BFSP2 was added gene: BFSP2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BFSP2 were set to Cataract 12, multiple types, 611597

Structural eye disease Gene: BFSP2