Rare multisystem ciliopathy disorders
Gene: CCDC40

CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: primary ciliary dyskinesia not included on this panel
Created: 23 Jan 2017, 2:23 p.m.

Created: 23 Jan 2017, 2:23 p.m.

Panel version: 0.429

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted because this is green on the Primary ciliary disorders gene panel.
Created: 28 Nov 2016, 10:31 a.m.

Created: 28 Nov 2016, 10:31 a.m.

Panel version: 0.335

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Ciliary dyskinesia, primary, 14, 613807
ciliopathies

OMIM

613799

Clinvar variants

Variants in CCDC40

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1