Laterality disorders and isomerism

Gene: CCDC40

Green List (high evidence)

CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 13 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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):462-72
Created: 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)

Green List (high evidence)

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 given
Created: 5 Dec 2018, 12:52 p.m.

History Filter Activity

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC40 were set to

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, 613808

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 3

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)

5 Dec 2018, Gel status: 1

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