Neonatal cholestasis
Gene: CFTRPMID: 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 associationCreated: 25 Jul 2018, 11:09 a.m.
Comment on publications: added publications to support disease-disease associationCreated: 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 morbidIDsCreated: 25 Jul 2018, 10:53 a.m.
Comment on mode of inheritance: added MOI from external clinical reviewCreated: 25 Jul 2018, 10:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; cystic fibrosis; pancreatitis
This panel has been subjected to extensive internal and external review.
Publications for gene: CFTR were set to 27806795; 22798282; 21194565; 9934970
Gene: cftr has been classified as Green List (High Evidence).
Gene: cftr has been classified as Green List (High Evidence).
Publications for gene: CFTR were set to 27806795; 22798282; 21194565
Publications for gene: CFTR were set to 27806795
Phenotypes for gene: CFTR were set to Neonatal and Adult Cholestasis; Cholestasis; Cystic fibrosis, 219700; Pancreatitis, 167800
Mode of inheritance for gene: CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to CFTR. Panel: Cholestasis
CFTR was added to Cholestasis panel. Sources: Emory Genetics Laboratory
CFTR was created by Ellen McDonagh