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Newborns main panel

Gene: CCDC103

Green List (high evidence)
CCDC103 (coiled-coil domain containing 103)
EnsemblGeneIds (GRCh38): ENSG00000167131
EnsemblGeneIds (GRCh37): ENSG00000167131
OMIM: 614677, Gene2Phenotype
CCDC103 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC103 is DNAAF19
Created: 31 Dec 2025, 3:24 p.m. | Last Modified: 31 Dec 2025, 3:24 p.m.
Panel Version: 0.499
Created: 31 Dec 2025, 3:24 p.m.
Last Modified: 31 Dec 2025, 3:24 p.m.
Panel version: 0.499

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
CCDC103 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 17
Tags
new-gene-name
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC103.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 17 for gene: CCDC103

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CCDC103. Added phenotypes Ciliary dyskinesia, primary, 17 for gene: CCDC103 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CCDC103. Added phenotypes Ciliary dyskinesia, primary, 17 for gene: CCDC103 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CCDC103. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CCDC103 was added gene: CCDC103 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17