Additional findings health related
Gene: CFTRComment on list classification: A seperate panel will be used for analysis of this gene.Created: 14 Oct 2019, 4:11 p.m. | Last Modified: 14 Oct 2019, 4:11 p.m.
Panel Version: 0.76
Comment on phenotypes: Clinically relevant transcript NM_000492.3Created: 21 May 2018, 3:53 p.m.
Mode of inheritance for gene: CFTR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Tag curated_removed tag was added to gene: CFTR.
Transcript for gene CFTR was changed from NM_000492.3 to ENST00000003084.10; NM_000492.3
Source Carrier Status was removed from CFTR. Source Expert Review was added to CFTR. Transcript for gene CFTR was changed from None to NM_000492.3
Gene: cftr has been removed from the panel.
Phenotypes for gene: CFTR were changed from NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only to ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Phenotypes for gene: CFTR were changed from NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only to NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Gene: cftr has been classified as Green List (High Evidence).
Gene: cftr has been removed from the panel.
Phenotypes for CFTR were set to NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only
Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis; Adult-only
Mode of pathogenicity for CFTR was changed to None
Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
CFTR was added to Genomics England Secondary Findings panel. Sources: Carrier Status
CFTR was created by Ellen McDonagh