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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. CCDC114
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: CCDC114

Green List (high evidence)
CCDC114 (coiled-coil domain containing 114)
EnsemblGeneIds (GRCh38): ENSG00000105479
EnsemblGeneIds (GRCh37): ENSG00000105479
OMIM: 615038, Gene2Phenotype
CCDC114 is in 8 panels

6 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1
Created: 24 Feb 2021, 3:08 p.m. | Last Modified: 24 Feb 2021, 3:08 p.m.
Panel Version: 1.43
Created: 24 Feb 2021, 3:08 p.m.
Last Modified: 24 Feb 2021, 3:08 p.m.
Panel version: 1.43

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: CCDC114; 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, 20, 615067

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases for causation of PCD. One large multiply consanguinous family had two individuals with complex cardiac malformations. Other reported cases did not have situs anomalies.
Created: 4 Jul 2017, 7:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; situs inversus

Publications

Created: 4 Jul 2017, 7:25 a.m.

Panel version: Imported from Primary ciliary disorders panel version 1.8

Caroline Wright (Genomics England Curator)

Comment on list classification: 2 expert reviewers suggesting green list and current diagnostic
Created: 10 May 2016, 8:55 a.m.
Created: 10 May 2016, 8:55 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.5

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, 20

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, 20, 615067
Tags
new-gene-name
OMIM
615038
Clinvar variants
Variants in CCDC114
Penetrance
None
Panels with this gene

History Filter Activity

24 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: CCDC114.

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CCDC114. 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: CCDC114 was added gene: CCDC114 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCDC114 was set to