This Panel is marked as Deleted
GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: CCDC40
CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels
1 review
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: CCDC40; 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
- OMIM
- 613799
- Clinvar variants
- Variants in CCDC40
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Nov 2018, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CCDC40. Rating Changed from Red List (low evidence) to Green List (high evidence)
26 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CCDC40 was added gene: CCDC40 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC40 was set to