Bardet-Biedl Syndrome

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 12 panels

2 reviews

Caroline Wright (Genomics England Curator)

Comment on list classification: Good evidence in SENIOR-LOKEN SYNDROME, some evidence in BBS in OMIM. On DDG2P as confirmed biallelic LOF.
17 Dec 2015, 2:54 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mutations identified in five BBS families
14 Oct 2015, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
613615

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
OMIM
613524
Clinvar variants
Variants in SDCCAG8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome; 613615

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SDCCAG8 were set to PMID: 22190896

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 2

Set Phenotypes

Caroline Wright (Genomics England Curator)

Phenotypes for SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SDCCAG8 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SDCCAG8 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services