Neonatal cholestasis

Gene: CFTR

Green List (high evidence)

CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

PMID: 9934970 Neonatal cholestasis is caused by a number of metabolic disorders with cystic fibrosis (CF) and alpha-1-antitrypsin deficiency (α1ATD) being the most common. Although infants with CF are more likely to present with meconium ileus or steatorrhea with failure to thrive, 5% of patients with CF manifest with neonatal cholestasis.
Created: 25 Jul 2018, 1:58 p.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association
Created: 25 Jul 2018, 11:09 a.m.
Comment on publications: added publications to support disease-disease association
Created: 25 Jul 2018, 11:09 a.m.
Comment on publications: Zhonghua et al (2016) PMID: 27806795 described a 5 months old boy with cholestasis which developed in neonatal period with delayed meconium exclusion..The genetic analysis showed compound heterozygous mutations in CFTR. The liver function normalized when he was 11 months old.When he was 21 months old, he had normal appearance except mild splenomegaly.(2) Literature review identified 25 infantile cholestatic cases related to cystic fibrosis (CF) diagnosed by sweat test or gene analysis.
Created: 25 Jul 2018, 10:55 a.m.
Comment on phenotypes: added phenotypes suggested by external clinical review, and OMIM morbidIDs
Created: 25 Jul 2018, 10:53 a.m.
Comment on mode of inheritance: added MOI from external clinical review
Created: 25 Jul 2018, 10:45 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; cystic fibrosis; pancreatitis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis
  • Cystic fibrosis, 219700
  • Pancreatitis, 167800
OMIM
602421
Clinvar variants
Variants in CFTR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFTR were set to 27806795; 22798282; 21194565; 9934970

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFTR were set to 27806795; 22798282; 21194565

25 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CFTR were set to 27806795

25 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFTR were set to Neonatal and Adult Cholestasis; Cholestasis; Cystic fibrosis, 219700; Pancreatitis, 167800

25 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CFTR. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFTR was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CFTR was created by Ellen McDonagh