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  2. Severe early-onset obesity
  3. SCAPER
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Severe early-onset obesity

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: Expert list
Created: 1 Nov 2021, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Nov 2021, 5:49 a.m.

Panel version: 0.58

Details

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

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCAPER was added gene: SCAPER was added to Severe early-onset obesity. Sources: Expert list Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319 Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome Review for gene: SCAPER was set to GREEN