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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
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
ODAD1 curation results (clinicalgenome.org)
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: 0.250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • primary ciliary dyskinesia 20
Tags
new-gene-name
OMIM
615038
Clinvar variants
Variants in CCDC114
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: CCDC114. Tag ODAD1 was removed from gene: CCDC114.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes primary ciliary dyskinesia 20 for gene: CCDC114

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 CCDC114. Added phenotypes primary ciliary dyskinesia 20 for gene: CCDC114 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 CCDC114. Added phenotypes primary ciliary dyskinesia 20 for gene: CCDC114 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CCDC114. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: CCDC114. Tag ODAD1 tag was added to gene: CCDC114.

27 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CCDC114 was added gene: CCDC114 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC114 were set to primary ciliary dyskinesia 20