1. Genes and Genomic Entities
  2. MASP1

MASP1

mannan binding lectin serine peptidase 1
OMIM: 600521, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red MASP1 in COVID-19 research


Level 2: Viral research
Version 1.146

review Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Red MASP1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Green MASP1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • 3MC syndrome 1 - 257920
    Green MASP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 3MC SYNDROME 1
    Amber MASP1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • 3MC syndrome 1, OMIM:257920
    • 3MC syndrome 1, MONDO:0009770
    Green MASP1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 3MC SYNDROME 1 257920
    Green MASP1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • #257920: 3MC syndrome 1
    Green MASP1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 3MC SYNDROME 1
    • 3MC1
    Green MASP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 3MC SYNDROME 1
    • 3MC1