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  3. CCDC114
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Laterality disorders and isomerism

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

3 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: 1.21
Created: 24 Feb 2021, 3:08 p.m.
Last Modified: 24 Feb 2021, 3:08 p.m.
Panel version: 1.21

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Pathogenic bi-allelic variants detected in several PCD patients with and without situs inversus.

Good literature evidence.
Created: 25 Nov 2019, 11:49 p.m. | Last Modified: 25 Nov 2019, 11:49 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 615067 Ciliary dyskinesia, primary, 20

Publications

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

Created: 25 Nov 2019, 11:49 p.m.
Last Modified: 25 Nov 2019, 11:49 p.m.
Panel version: 0.51

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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

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
Publications
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.

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC114 were set to

16 May 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, 615067

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 Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC114 was set to