Transplant Co-Morbidity Superpanel
Gene: CFTR
CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 17 panels
1 review
Claire Fryer-Smith (University of Melbourne)
https://www.pharmgkb.org/vip/PA166169453/overview
Sources: Expert listCreated: 24 Aug 2023, 4:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital bilateral absence of vas deferens MIM#277180; Cystic fibrosis MIM#219700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Congenital bilateral absence of vas deferens MIM#277180
- Cystic fibrosis MIM#219700
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- Panels with this gene
-
- Pancreatitis
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Pulmonary Fibrosis_Interstitial Lung Disease
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- Prepair 500+
- Interstitial Lung Disease
- Congenital Diarrhoea
History Filter Activity
24 Aug 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Claire Fryer-Smith (University of Melbourne)gene: CFTR was added gene: CFTR was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Congenital bilateral absence of vas deferens MIM#277180; Cystic fibrosis MIM#219700