Primary ciliary 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
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:32 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 610162
- Clinvar variants
- Variants in CCDC28B
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Skeletal dysplasia
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ophthalmological ciliopathies
- Limb disorders
- Cystic kidney disease
- Neurological ciliopathies
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC28B was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory