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Fetal anomalies

Gene: CFTR

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Can present antenatally with fetal echogenic bowel.
Created: 15 Nov 2021, 12:38 a.m. | Last Modified: 15 Nov 2021, 12:38 a.m.
Panel Version: 0.436

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis, MIM# 219700

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cftr has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFTR were changed from Cystic fibrosis 219700 to Cystic fibrosis, MIM# 219700

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFTR was added gene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis 219700