SNX10

sorting nexin 10
OMIM: 614780, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SNX10 in COVID-19 research


Level 2: Viral research
Version 1.79

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with visual impairment
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity

Green SNX10 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 8, OMIM:615085

Red SNX10 in Primary immunodeficiency


Version 2.468
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with visual impairment
  • Defects in intrinsic and innate immunity

Green SNX10 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.126
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteopetrosis, autosomal recessive 8 615085

    Amber SNX10 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 8, OMIM:615085
    • Autosomal recessive osteopetrosis 8, MONDO:0014040
    Tags
    • for-review

    Green SNX10 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 8, 615085

    Green SNX10 in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.26
    Latest signed off version: v1.1 (21 Sep 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, autosomal recessive 8 OMIM:615085