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  3. FSCN2
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Macular Dystrophy/Stargardt Disease

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 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: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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

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

9 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FSCN2 were set to

5 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FSCN2 was added gene: FSCN2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921