Renal 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
3 reviews
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
-
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- SENIOR-LOKEN SYNDROME
- Bardet-Biedl Syndrome
- 613615
- Senior-Loken syndrome
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Severe early-onset obesity
History Filter Activity
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 Renal 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