Skeletal ciliopathies
Gene: SDCCAG8
SDCCAG8 (serologically defined colon cancer antigen 8)
EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 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 7Created: 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)
Mutations identified in five BBS familiesCreated: 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 Removed
- Orphanet
- Expert list
- Phenotypes
-
- SENIOR-LOKEN SYNDROME
- Bardet-Biedl Syndrome
- 613615
- Senior-Loken syndrome
- Tags
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
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