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Prepair 1000+

Gene: CCDC39

Green List (high evidence)
CCDC39 (coiled-coil domain containing 39)
EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 11 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Primary ciliary dyskinesia (PCD) is an inherited disorder characterised by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome) (PMID: 21131972).

Onset in early infancy (OMIM). Mostly due to PTC variants, not many missense reported (DECIPHER).
Created: 25 Oct 2024, 3:20 a.m. | Last Modified: 25 Oct 2024, 3:20 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 14 MIM#613807

Publications

Created: 25 Oct 2024, 3:20 a.m.
Last Modified: 25 Oct 2024, 3:20 a.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807 (3)
OMIM
613798
Clinvar variants
Variants in CCDC39
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc39 has been classified as Green List (High Evidence).

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC39 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) for gene: CCDC39

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC39 was added gene: CCDC39 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)