Primary ciliary disorders
Gene: CCDC65EnsemblGeneIds (GRCh38): ENSG00000139537
EnsemblGeneIds (GRCh37): ENSG00000139537
OMIM: 611088, Gene2Phenotype
CCDC65 is in 7 panels
3 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 27, 615504
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
Comment on list classification: Multiple patients reportedCreated: 10 May 2016, 9 a.m.
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, 27
Publications
- PMID:24094744
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ciliary dyskinesia, primary, 27, 615504
- OMIM
- 611088
- Clinvar variants
- Variants in CCDC65
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for CCDC65 was changed to BIALLELIC, autosomal or pseudoautosomal
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).
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC65 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)CCDC65 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN