Structural eye disease
Gene: FSCN2

FSCN2 (fascin actin-bundling protein 2, retinal)
EnsemblGeneIds (GRCh38): ENSG00000186765
EnsemblGeneIds (GRCh37): ENSG00000186765
OMIM: 607643, Gene2Phenotype
FSCN2 is in 3 panels

2 reviews

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

Red List (low evidence)

retinal 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
Retinitis pigmentosa 30; 607921

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). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 30, 607921

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 30, 607921
Eye Disorders

OMIM

607643

Clinvar variants

Variants in FSCN2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FSCN2. Mode of inheritance for gene FSCN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 30, 607921 for gene: FSCN2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FSCN2 was added gene: FSCN2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: FSCN2 was set to Phenotypes for gene: FSCN2 were set to Eye Disorders

Structural eye disease Gene: FSCN2