MASP2

mannan binding lectin serine peptidase 2
OMIM: 605102, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red MASP2 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes MASP2-deficiency
Green MASP2 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature IUIS Classification December 2019 IUIS Classification February 2018 ESID Registry 20171117 Victorian Clinical Genetics Services GRID V2.0 London North GLH NHS GMS North West GLH Phenotypes MASP2 deficiency 613791 Mannan-binding lectin serine protease (MASP) deficiency Complement Deficiencies Not associated with SARS-CoV susceptibility Pyogenic infections, inflammatory lung disease, autoimmunity
Red MASP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 IUIS Classification February 2018 ESID Registry 20171117 Victorian Clinical Genetics Services Expert Review Red GRID V2.0 London North GLH NHS GMS North West GLH Phenotypes MASP2 deficiency, OMIM:613791 Mannan-binding lectin serine protease (MASP) deficiency Pyogenic infections, inflammatory lung disease, autoimmunity