1. Panels
  2. Syndromic Retinopathy
  3. SCAPER
STRs in panel
Prev Next
Regions in panel
Prev Next

Syndromic Retinopathy

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 7 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: Gene is on the syndromic retinopathy panel
Created: 25 May 2020, 6:02 a.m. | Last Modified: 25 May 2020, 6:02 a.m.
Panel Version: 0.51
Single case reported with nonsyndromic retinitis pigmentosa.
Created: 25 May 2020, 6:01 a.m. | Last Modified: 25 May 2020, 6:01 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic retinitis pigmentosa

Publications

Created: 25 May 2020, 6:01 a.m.
Last Modified: 25 May 2020, 6:01 a.m.
Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version 0.49

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Sources: Expert Review
Created: 3 May 2020, 10:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome

Publications

Created: 3 May 2020, 10:34 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.73

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene.
Sources: Literature
Created: 13 Dec 2019, 6:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; retinitis pigmentosa

Publications

Created: 13 Dec 2019, 6:02 a.m.

Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version Imported from Retinitis Pigmentosa panel version 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Expert list
  • Expert Review
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa MIM#618195
OMIM
611611
Clinvar variants
Variants in SCAPER
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCAPER was added gene: SCAPER was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 28794130 Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195