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  3. CCDC114
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Primary ciliary disorders

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

5 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: 1.29
Created: 24 Feb 2021, 3:08 p.m.
Last Modified: 24 Feb 2021, 3:08 p.m.
Panel version: 1.29

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: 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: 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: 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: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
new-gene-name
OMIM
615038
Clinvar variants
Variants in CCDC114
Penetrance
Complete
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.

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC114 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC114 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN