NRCAM

neuronal cell adhesion molecule
OMIM: 601581, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red NRCAM in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber NRCAM in Childhood onset hereditary spastic paraplegia


Version 4.42
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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
    Green NRCAM in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

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