Cholestasis
Gene: CFTREnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on publications: New publications added.Created: 23 Nov 2021, 11:39 a.m. | Last Modified: 23 Nov 2021, 11:39 a.m.
Panel Version: 1.96
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cholestasis
- Neonatal and Adult Cholestasis
- Cystic fibrosis, OMIM:219700, MONDO:0009061
- {Pancreatitis, hereditary}, OMIM:167800
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- COVID-19 research
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
- Additional findings health related
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: CFTR. Tag Q4_21_NHS_review was removed from gene: CFTR.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to CFTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970; 26436368; 31041076
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: CFTR.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: CFTR.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CFTR was added gene: CFTR was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970 Phenotypes for gene: CFTR were set to Cholestasis; Neonatal and Adult Cholestasis; Cystic fibrosis, OMIM:219700, MONDO:0009061; {Pancreatitis, hereditary}, OMIM:167800