Primary ciliary disorders
Gene: CCDC151Added 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
Comment on phenotypes: added phenotypes from expert reviewCreated: 22 Sep 2017, 9:10 a.m.
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.
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
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 30
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: CCDC151.
Phenotypes for CCDC151 were set to Ciliary dyskinesia, primary, 30, 616037
Publications for CCDC151 were set to 25192045
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CCDC151 was created by hmitchis
CCDC151 was added to Primary ciliary disorderspanel. Sources: Expert Review