Thoracic dystrophies
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
2 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Retinal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Structural eye disease
- Intellectual disability
- Severe early-onset obesity
- Cystic kidney disease
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Limb disorders
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SDCCAG8 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory