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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. CCDC65
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Respiratory ciliopathies including non-CF bronchiectasis

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The 'new-gene-name' tag has been added as the approved HGNC gene symbol for CCDC65 is DRC2.
Created: 28 Apr 2025, 11:16 a.m. | Last Modified: 28 Apr 2025, 11:16 a.m.
Panel Version: 3.37
Created: 28 Apr 2025, 11:16 a.m.
Last Modified: 28 Apr 2025, 11:16 a.m.
Panel version: 3.37

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CCDC65; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 27, 615504

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Caroline Wright (Genomics England Curator)

Comment on list classification: Multiple patients reported
Created: 10 May 2016, 9 a.m.
Created: 10 May 2016, 9 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.6

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 27

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 4:25 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Tags
new-gene-name founder-effect
OMIM
611088
Clinvar variants
Variants in CCDC65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CCDC65 were set to

12 Jun 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag founder-effect tag was added to gene: CCDC65.

28 Apr 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC65.

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CCDC65. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CCDC65 was added gene: CCDC65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC65 was set to