MUC5B

mucin 5B, oligomeric mucus/gel-forming
OMIM: 600770, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MUC5B in Mendeliome


Version 1.4216

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Tags
  • 5'UTR

Red MUC5B in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.3

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Tags
  • 5'UTR

Red MUC5B in Additional findings_Paediatric


Level 2: Screening
Version 0.280

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Pulmonary fibrosis, idiopathic

Red MUC5B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary fibrosis, idiopathic