1. Genes and Genomic Entities
  2. NANS

NANS

N-acetylneuraminate synthase
OMIM: 605202, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red NANS in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

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

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
    Green NANS in Severe Paediatric Disorders


    Version 1.184

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