Cholestasis

Gene: CFTR

Amber List (moderate evidence)

CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 17 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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

History Filter Activity

18 Nov 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CFTR.

18 Nov 2020, Gel status: 2

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