MBL2

mannose binding lectin 2
OMIM: 154545, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red MBL2 in COVID-19 research


Level 2: Viral research
Version 1.142

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Amber
  • Inherited complement deficiency v0.11
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Mannose-binding lectin deficiency (MBL)
  • susceptibility to SARS-CoV
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Chronic infections, due to MBL deficiency
  • Mannose-Binding Protein Deficiency, 614372
Amber MBL2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Amber
  • Inherited complement deficiency v0.11
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Mannose-Binding Protein Deficiency, 614372
  • Chronic infections, due to MBL deficiency
  • Mannose-binding lectin deficiency (MBL)
Tags
  • curated-variant-list
Red MBL2 in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • Mental retardation