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Retinal disorders

Gene: FSCN2

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

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

not an rp gene
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Simon Ramsden (NHS)

Red List (low evidence)

This disease association is largely based upon a single finding: PMID: 11527955. Other reported instances are less convincing.
Created: 1 Jun 2016, 10:13 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

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

Created: 1 Jun 2016, 10:13 a.m.

Panel version: 0.172

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
One reported variant on OMIM, however PMID: 17251446 reports that it is not assocoated with retinal degeneration in Chinese population.
Created: 22 Mar 2016, 12:16 p.m.
Created: 22 Mar 2016, 12:16 p.m.

Panel version: 0.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 30, 607921
OMIM
607643
Clinvar variants
Variants in FSCN2
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FSCN2.

1 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).

22 Mar 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).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FSCN2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FSCN2 was created by ellenmcdonagh