PanelApp
  1. Genes and Genomic Entities
  2. LRP1

LRP1

LDL receptor related protein 1
OMIM: 107770, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber LRP1 in Mendeliome


Version 2.636

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental dysplasia of the hip 3, MIM# 620690
  • Keratosis pilaris atrophicans MIM#604093

Amber LRP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.161

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • Syndromic disease, MONDO:0002254
  • developmental dysplasia of the hip 3, MONDO:0958037
  • keratosis pilaris atrophicans, MONDO:0018855
  • ?Keratosis pilaris atrophicans, MIM#604093
  • Developmental dysplasia of the hip 3, MIM#620690