Cystic kidney disease
Gene: CCDC28B
CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 12 panels
2 reviews
Miranda Durkie (Genetics)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Modifier of BBS.Created: 10 May 2016, 10:11 a.m.
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 610162
- Clinvar variants
- Variants in CCDC28B
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC28B was added to Cystic kidney diseasepanel. Sources: Expert