LRRC32

leucine rich repeat containing 32
OMIM: 137207, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red LRRC32 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Common variable immunodeficiency
  • Enteropathy
  • Lymphopenia
  • Reduced Tregs
Green LRRC32 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047
Amber LRRC32 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 Amber
    • Literature
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
    Tags
    • founder-effect
    Amber LRRC32 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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 Amber
    • Literature
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
    Tags
    • founder-effect
    Amber LRRC32 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074
    Tags
    • founder-effect