Limb 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
1 review
Eleanor Williams (Genomics England Curator)
Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0).
Modifier gene
Sources: LiteratureCreated: 25 Nov 2019, 10:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Bardet-Biedl syndrome 1, modifier of}, 209900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- {Bardet-Biedl syndrome 1, modifier of}, 209900
- OMIM
- 610162
- Clinvar variants
- Variants in CCDC28B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Neurological ciliopathies
- Limb disorders
- Cystic kidney disease
- Bardet Biedl syndrome
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
25 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CCDC28B was added gene: CCDC28B was added to Limb disorders. Sources: Literature Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900 Review for gene: CCDC28B was set to RED