Ductal plate malformation

Gene: CCDC114

Red List (low evidence)

CCDC114 (coiled-coil domain containing 114)
EnsemblGeneIds (GRCh38): ENSG00000105479
EnsemblGeneIds (GRCh37): ENSG00000105479
OMIM: 615038, Gene2Phenotype
CCDC114 is in 9 panels

1 review

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1
Created: 24 Feb 2021, 3:07 p.m. | Last Modified: 24 Feb 2021, 3:07 p.m.
Panel Version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
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: 1

Added Tag

Catherine Snow (Genomics England)

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

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from amber to red as i

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CCDC114 was added gene: CCDC114 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20 (615067)