1. Panels
  2. Congenital Diarrhoea
  3. CFTR
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Diarrhoea

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)

Malabsorption due to pancreatic insufficiency.
Created: 4 Jan 2021, 3:19 a.m. | Last Modified: 4 Jan 2021, 3:19 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis, MIM# 219700

Created: 4 Jan 2021, 3:19 a.m.
Last Modified: 4 Jan 2021, 3:19 a.m.
Panel version: 0.18

History Filter Activity

4 Jan 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).

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFTR was added gene: CFTR was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFTR was set to Unknown