Skeletal ciliopathies


No list

SDCCAG8 (serologically defined colon cancer antigen 8)
EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 22 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Created: 28 Nov 2019, 3:32 p.m. | Last Modified: 28 Nov 2019, 3:32 p.m.
Panel Version: 0.39
From OMIM:
No polydactyly - Bardet-Biedl syndrome 16
No skeletal phenotype in Senior-Loken syndrome 7
Created: 11 Jul 2019, 1:32 p.m. | Last Modified: 11 Jul 2019, 1:32 p.m.
Panel Version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:55 p.m.

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.
Created: 17 Dec 2015, 2:54 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: SDCCAG8.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sdccag8 has been removed from the panel.

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: SDCCAG8 was added gene: SDCCAG8 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDCCAG8 were set to 22190896 Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome; 613615; Senior-Loken syndrome