1. Genes and Genomic Entities
  2. LRP4

LRP4

LDL receptor related protein 4
OMIM: 604270, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red LRP4 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Green LRP4 in Limb disorders


Level 2: Musculoskeletal
Version 8.6
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Other
    Phenotypes
    • Cenani-Lenz syndactyly syndrome, OMIM:212780
    • CLSS
    • Cenani syndactyly
    • Cenani-Lenz syndactyly
    • Syndactyly type 7
    • Polydactyly
    Green LRP4 in Congenital myaesthenic syndrome


    Level 2: Neurology
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • ?Myasthenic syndrome, congenital, 17, OMIM:616304
    Green LRP4 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    Phenotypes
    • Sclerosteosis 2 614305
    • Cenani-Lenz syndactyly syndrome 212780
    Green LRP4 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.182

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cenani-Lenz syndactyly syndrome, 212780
    Green LRP4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CENANI-LENZ SYNDACTYLY SYNDROME
    Red LRP4 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    		review Not set
    Sources
    • Expert
    Green LRP4 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CENANI-LENZ SYNDACTYLY SYNDROME 212780
    Red LRP4 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cenani-Lenz syndactyly syndrome, 212780
    • Sclerosteosis 2, 614305