LRRC32

leucine rich repeat containing 32
OMIM: 137207, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber LRRC32 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074

Amber LRRC32 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074

Amber LRRC32 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074

    Amber LRRC32 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074

    Amber LRRC32 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074