LRRC32

leucine rich repeat containing 32
OMIM: 137207, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber LRRC32 in Mendeliome


Version 2.0

1 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 2.0

1 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 1.0

1 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 1.0

1 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 2.0

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