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Retinal disorders

Gene: SCAPER

Green List (high evidence)

SCAPER (S-phase cyclin A associated protein in the ER)
EnsemblGeneIds (GRCh38): ENSG00000140386
EnsemblGeneIds (GRCh37): ENSG00000140386
OMIM: 611611, Gene2Phenotype
SCAPER is in 4 panels

2 reviews

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

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and internal clinical support for gene-disease association. Retinitis pigmentosa onset is variable and spans child / adult onset depending on the gene, so it is fine to be on the retinal panel.
Created: 30 Nov 2018, 2:12 p.m.
Past onto internal clinical team for further review and consideration to upgrade rating to Green. Query on Retinitis pigmentosa onset.
Created: 30 Nov 2018, 2:08 p.m.
Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.
Created: 21 Nov 2018, 11:35 a.m.

Phenotypes
More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Literature
Phenotypes
  • More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism
  • Intellectual developmental disorder and retinitis pigmentosa, 618195
OMIM
611611
Clinvar variants
Variants in SCAPER
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SCAPER. Rating Changed from Green List (high evidence) to Green List (high evidence)

30 Nov 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SCAPER were set to 28041643

30 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: scaper has been classified as Green List (High Evidence).

30 Nov 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SCAPER was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Nov 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SCAPER were changed from More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism to More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism; Intellectual developmental disorder and retinitis pigmentosa, 618195

17 Jan 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SCAPER was created by LouiseD

17 Jan 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SCAPER was added to Posterior segment abnormalitiespanel. Sources: Literature