This Panel is marked as Internal
Renal and urinary tract disorders
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 610162
- Clinvar variants
- Variants in CCDC28B
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Cystic kidney disease
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: CCDC28B
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CCDC28B was added gene: CCDC28B was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: CCDC28B was set to Unknown Phenotypes for gene: CCDC28B were set to Ciliopathy genes associated with cystic kidney disease