Bardet-Biedl Syndrome
Gene: SDCCAG8EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 panels
2 reviews
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 Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- SENIOR-LOKEN SYNDROME
- Bardet-Biedl Syndrome
- 613615
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- Complete
- Publications
-
- PMID: 22190896
- 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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome; 613615
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SDCCAG8 were set to PMID: 22190896
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Caroline Wright (Genomics England Curator)Phenotypes for SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome
Added New Source
GEL ()SDCCAG8 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SDCCAG8 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services