Genes in panel
Regions in panel
Prev Next

Intellectual disability

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

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed from Red to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association in view of new publication Tatour et al. (2017) PMID: 28794130
Created: 30 Nov 2018, 2:21 p.m.
Comment on publications: Added publications to support upgrading of the gene to Green
Created: 21 Nov 2018, 11:27 a.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, 11:24 a.m.
Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) associated to mental retardation from a study which denoted SCAPER as a candidate ID gene (PMID:21937992) via homozygosity mapping, exon enrichment and next-generation sequencing in 136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere.
Created: 18 Dec 2017, 3:39 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Intellectual developmental disorder and retinitis pigmentosa, 618195
OMIM
611611
Clinvar variants
Variants in SCAPER
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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 publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SCAPER were set to 21937992; 28794130

21 Nov 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SCAPER were set to 21937992

21 Nov 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SCAPER were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Intellectual developmental disorder and retinitis pigmentosa, 618195

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCAPER was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCAPER was created by ellenmcdonagh