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  2. Severe early-onset obesity
  3. SDCCAG8
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Severe early-onset obesity

Gene: SDCCAG8

Green List (high evidence)
SDCCAG8 (serologically defined colon cancer antigen 8)
EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Polydactyly is typically ABSENT.
Created: 8 Oct 2020, 3:38 a.m. | Last Modified: 8 Oct 2020, 3:38 a.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444

Publications

Created: 8 Oct 2020, 3:38 a.m.
Last Modified: 8 Oct 2020, 3:38 a.m.
Panel version: Imported from Bardet Biedl syndrome panel version 1.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
OMIM
613524
Clinvar variants
Variants in SDCCAG8
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: sdccag8 has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16, OMIM:615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SDCCAG8 were set to

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SDCCAG8 was added gene: SDCCAG8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Obesity; Bardet-Biedl syndrome 16, OMIM:615993