Familial pulmonary fibrosis

Gene: MUC5B

Red List (low evidence)

MUC5B (mucin 5B, oligomeric mucus/gel-forming)
EnsemblGeneIds (GRCh38): ENSG00000117983
EnsemblGeneIds (GRCh37): ENSG00000117983
OMIM: 600770, Gene2Phenotype
MUC5B is in 2 panels

2 reviews

Philip Molyneaux (Imperial College)

I don't know

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.

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Common polymorphism only reported
Created: 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 fibrosis
Created: 8 Feb 2017, 2:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to} 178500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500
Tags
promoter
OMIM
600770
Clinvar variants
Variants in MUC5B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 Feb 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for MUC5B were set to 21506741

8 Feb 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for MUC5B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MUC5B was added to Familial pulmonary fibrosispanel. Source: Eligibility statement prior genetic testing Model of inheritance for gene MUC5B was set to Unknown

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MUC5B was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MUC5B was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen