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Mendeliome

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

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Reviewed red by Bryony Thompson for RP/Macular Degeneration: 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.

No other gene disease association found in pubmed.
Created: 29 Dec 2021, 10:47 p.m. | Last Modified: 29 Dec 2021, 10:47 p.m.
Panel Version: 0.10393

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 30 MIM#607921; Macular degeneration

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration

29 Dec 2021, Gel status: 1

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: FSCN2 were set to

29 Dec 2021, Gel status: 1

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: FSCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FSCN2 was added gene: FSCN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FSCN2 was set to Unknown