1. Genes and Genomic Entities
  2. LRRC32

LRRC32

leucine rich repeat containing 32
OMIM: 137207, Gene2Phenotype

4 panels

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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Common variable immunodeficiency
  • Enteropathy
  • Lymphopenia
  • Reduced Tregs
Amber LRRC32 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

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