NRCAM

neuronal cell adhesion molecule
OMIM: 601581, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber NRCAM in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.14
Latest signed off version: v9.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Tags
  • watchlist
Amber NRCAM in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.26
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
    Tags
    • watchlist
    Amber NRCAM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.31
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
    Tags
    • Q3_26_promote_green
    Green NRCAM in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity
    Green NRCAM in Intellectual disability


    Level 2: Developmental disorders
    Version 11.72
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833