QSER1:Ensemblv90

glutamine and serine rich 1
ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber QSER1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

Red QSER1 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Literature
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

    Red QSER1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

    Red QSER1 in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

    Red QSER1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    • Literature
    • Literature
    • Expert Review Red
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, QSER1-related