Limb disorders
Gene: SDCCAG8EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore changing the rating of this gene to red on the limb disorders panel.Created: 29 Nov 2019, 10:24 a.m. | Last Modified: 29 Nov 2019, 10:24 a.m.
Panel Version: 1.136
Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 10:01 p.m. | Last Modified: 25 Nov 2019, 10:01 p.m.
Panel Version: 1.99
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:10 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Senior-Loken syndrome 7, 613615
- Bardet-Biedl syndrome 16, 615993
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- 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
- Fetal anomalies
- Severe early-onset obesity
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SDCCAG8 were changed from Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: sdccag8 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: sdccag8 has been classified as Green List (High Evidence).
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SDCCAG8 were changed from Polydactyly to Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: sdccag8 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: sdccag8 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to SDCCAG8. Rating Changed from Red List (low evidence) to No List (delete)
Added New Source
Ellen McDonagh (Genomics England Curator)SDCCAG8 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)SDCCAG8 was created by Ellen McDonagh