SNX3

sorting nexin 3
OMIM: 605930, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SNX3 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MICROPHTHALMIA SYNDROMIC TYPE 8 601349
    Red SNX3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.535
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP)
    • mental retardation
    Tags
    • structural-variant
    Red SNX3 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • No OMIM
    • Microphthalmia, Syndromic 8, MCOPS8, 601349