Cystic kidney disease
Gene: SDCCAG8EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic, not relevant for this panel.Created: 10 May 2016, 12:38 p.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome type 16; Senior-Loken syndrome 7
Publications
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Severe early-onset obesity
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SDCCAG8 was added to Cystic kidney diseasepanel. Sources: Expert