Familial pulmonary fibrosis
Gene: MUC5B
Common SNP associated with sporadic Disease though initial identified in cohort of familial disease. Doesn't meet criteria but I would still up vote it given the building mechanistic evidence in IPF
Created: 26 Apr 2017, 12:12 p.m.
Comment on list classification: Common polymorphism only reportedCreated: 8 Feb 2017, 2:24 p.m.
Association of the minor allele (T) of a single-nucleotide polymorphism in the promoter of the MUC5B gene to idiopathic pulmonary fibrosisCreated: 8 Feb 2017, 2:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to} 178500
Publications
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
This gene has been classified as Red List (Low Evidence).
Publications for MUC5B were set to 21506741
Mode of inheritance for MUC5B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MUC5B was added to Familial pulmonary fibrosispanel. Source: Eligibility statement prior genetic testing Model of inheritance for gene MUC5B was set to Unknown
MUC5B was created by ellenmcdonagh
MUC5B was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen