NRXN1

neurexin 1
OMIM: 600565, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber NRXN1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
No list NRXN1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Removed
Green NRXN1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PITT HOPKINS 2
    • AUTISM 209850
    Green NRXN1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    Phenotypes
    • Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR)
    • Complex neurodevelopmental disorder (AD)
    Green NRXN1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR)
    • Complex neurodevelopmental disorder (AD)
    Green NRXN1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pitt-Hopkins-like syndrome 2, 614325