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Newborns main panel

Gene: CCDC65

Green List (high evidence)
CCDC65 (coiled-coil domain containing 65)
EnsemblGeneIds (GRCh38): ENSG00000139537
EnsemblGeneIds (GRCh37): ENSG00000139537
OMIM: 611088, Gene2Phenotype
CCDC65 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC65 is DRC2
Created: 31 Dec 2025, 3:25 p.m. | Last Modified: 31 Dec 2025, 3:25 p.m.
Panel Version: 0.499
Created: 31 Dec 2025, 3:25 p.m.
Last Modified: 31 Dec 2025, 3:25 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
PMID: 24094744 - 2 cases. PMID: 23991085 - 1 case - all 3 with same homozygous. c.876_877delAT variant
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, 27
Tags
new-gene-name
OMIM
611088
Clinvar variants
Variants in CCDC65
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: CCDC65.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 27 for gene: CCDC65

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 CCDC65. Added phenotypes Ciliary dyskinesia, primary, 27 for gene: CCDC65 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CCDC65 were changed from 2; Ciliary dyskinesia, primary, 27 to Ciliary dyskinesia, primary, 27

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 CCDC65. Added phenotypes Ciliary dyskinesia, primary, 27 for gene: CCDC65 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: CCDC65 was added gene: CCDC65 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC65 were set to 2