1. Panels
  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. SCAPER
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: SCAPER

Red List (low 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

2 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: 0.49

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 Retinitis Pigmentosa panel version 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

7 Feb 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).

7 Feb 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 Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319 Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Review for gene: SCAPER was set to GREEN