1. Genes and Genomic Entities
  2. SNX3

SNX3

sorting nexin 3
OMIM: 605930, Gene2Phenotype

3 panels

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


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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