GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: CCDC114EnsemblGeneIds (GRCh38): ENSG00000105479
EnsemblGeneIds (GRCh37): ENSG00000105479
OMIM: 615038, Gene2Phenotype
CCDC114 is in 8 panels
2 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for CCDC114 is ODAD1Created: 24 Feb 2021, 3:06 p.m. | Last Modified: 24 Feb 2021, 3:06 p.m.
Panel Version: 0.5
Louise Daugherty (Genomics England Curator)
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 intial 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 givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- Tags
- OMIM
- 615038
- Clinvar variants
- Variants in CCDC114
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: CCDC114.
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)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CCDC114 was added gene: CCDC114 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC114 was set to