Retinitis pigmentosa_Autosomal Dominant
Gene: FSCN2

FSCN2 (fascin actin-bundling protein 2, retinal)
EnsemblGeneIds (GRCh38): ENSG00000186765
EnsemblGeneIds (GRCh37): ENSG00000186765
OMIM: 607643, Gene2Phenotype
FSCN2 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Only one frameshift reported (c.72del) that has an allele frequency of 1.2% in east asians on gnomAD, including one homozygote. The mouse model has progressive photoreceptor degeneration with increasing age. Multiple publications excluding the gene as a cause of retinal degeneration.
Created: 5 Feb 2020, 5:20 a.m. | Last Modified: 5 Feb 2020, 5:20 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Retinitis pigmentosa 30 MIM#607921; Macular degeneration

Publications

Created: 5 Feb 2020, 5:20 a.m.
Last Modified: 5 Feb 2020, 5:20 a.m.
Panel version: Imported from Macular Dystrophy/Stargardt Disease panel version 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Royal Melbourne Hospital
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 30 MIM#607921
Macular degeneration

OMIM

607643

Clinvar variants

Variants in FSCN2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: fscn2 has been classified as Red List (Low Evidence).

29 Dec 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration

23 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FSCN2 was added gene: FSCN2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FSCN2 were set to 16043865; 18450588 Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921

Retinitis pigmentosa_Autosomal Dominant Gene: FSCN2