Primary ciliary disorders
Gene: CCDC151EnsemblGeneIds (GRCh38): ENSG00000198003
EnsemblGeneIds (GRCh37): ENSG00000198003
OMIM: 615956, Gene2Phenotype
CCDC151 is in 6 panels
5 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for CCDC151 is ODAD3Created: 24 Feb 2021, 5:07 p.m. | Last Modified: 24 Feb 2021, 5:07 p.m.
Panel Version: 1.29
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added phenotypes from expert reviewCreated: 22 Sep 2017, 9:10 a.m.
Caroline Wright (Genomics England Curator)
Comment on list classification: REF 25192045: we identified CCDC151 loss-of-function mutations in five affected individuals from three independent families whose cilia showed a complete loss of ODAs and severely impaired ciliary beating.Created: 10 May 2016, 9:16 a.m.
Ian Berry (Leeds Genetics Laboratory)
See Hjeij et al. Am J Hum Genet. 2014 Sep 4;95(3):257-74.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 30, 616037
Variants in this GENE are reported as part of current diagnostic practice
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 30
Publications
- PMID:25192045
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliary dyskinesia, primary, 30, 616037
- Tags
- OMIM
- 615956
- Clinvar variants
- Variants in CCDC151
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: CCDC151.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CCDC151 were set to Ciliary dyskinesia, primary, 30, 616037
Set publications
Louise Daugherty (Genomics England Curator)Publications for CCDC151 were set to 25192045
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Hannah Mitchison (UCL and GOSH)CCDC151 was created by hmitchis
Added New Source
Hannah Mitchison (UCL and GOSH)CCDC151 was added to Primary ciliary disorderspanel. Sources: Expert Review