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Prepair 1000+

Gene: CCDC103

Green List (high evidence)
CCDC103 (coiled-coil domain containing 103)
EnsemblGeneIds (GRCh38): ENSG00000167131
EnsemblGeneIds (GRCh37): ENSG00000167131
OMIM: 614677, Gene2Phenotype
CCDC103 is in 9 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotype includes neonatal respiratory distress and lifelong symptoms of chronic wet cough and rhinitis. Recurrent chest infections ultimately lead to bronchiectasis and a progressive decline in lung function. Approximately half of patients have situs inversus and other situs abnormalities.
The p.His154Pro variant is a common founder variant in the South Asian population.
Created: 6 Aug 2024, 6:57 a.m. | Last Modified: 6 Aug 2024, 6:57 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia-17, MIM # 614679

Publications

Created: 6 Aug 2024, 6:57 a.m.
Last Modified: 6 Aug 2024, 6:57 a.m.
Panel version: 1.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679 (3)
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ccdc103 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CCDC103 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ciliary dyskinesia, primary, 17, 614679 (3) for gene: CCDC103

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: CCDC103 was added gene: CCDC103 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)