NANS

N-acetylneuraminate synthase
OMIM: 605202, Gene2Phenotype

5 panels

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


Level 2: Neurology
Version 5.18
Latest signed off version: v5.14 (12 Aug 2026)

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


Level 2: Musculoskeletal
Version 10.8
Latest signed off version: v10.0 (12 Aug 2026)

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


    Level 2: Fetal (including NIPD)
    Version 8.7
    Latest signed off version: v8.0 (12 Aug 2026)

    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 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    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 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

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