NANS

N-acetylneuraminate synthase
OMIM: 605202, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red NANS in Hydrocephalus


Version 2.118
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

Green NANS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
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
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
    • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442

    Green NANS in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • infantile-onset severe developmental delay and skeletal dysplasia

    Green NANS in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • infantile-onset severe developmental delay and skeletal dysplasia

    Green NANS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442

    Green NANS in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442