Laterality disorders and isomerism
Gene: CCDC40EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels
2 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton panel. Multiple PCD patients reported (several with situs inversus)
All variants reported in the literature associated with PCD are predicted to lead to loss of function (eg: Antony et al (2013) Hum Mutat 34(3):462-72Created: 25 Nov 2019, 9:30 p.m. | Last Modified: 25 Nov 2019, 9:30 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 613808 Ciliary dyskinesia, primary, 15
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CCDC40; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 15, 613808
- OMIM
- 613799
- Clinvar variants
- Variants in CCDC40
- Penetrance
- None
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CCDC40 were set to
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, 613808
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CCDC40. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CCDC40 was added gene: CCDC40 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC40 was set to