1. Genes and Genomic Entities
  2. COLEC11

COLEC11

collectin subfamily member 11
OMIM: 612502, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red COLEC11 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Red COLEC11 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.88
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 COLEC11 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • 3MC syndrome 2 265050
    Green COLEC11 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 3MC SYNDROME 2
    Green COLEC11 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • 265050
    • 3MC syndrome 2 265050
    Green COLEC11 in DDG2P


    Version 6.447
    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 2 265050
    Green COLEC11 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    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 2
    • 3MC2
    Green COLEC11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 3MC syndrome 2, 265050
    • 3MC SYNDROME 2