1. Genes and Genomic Entities
  2. PIGQ

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q
OMIM: 605754, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber PIGQ in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.4
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 4
Red PIGQ in DDG2P


Version 8.1
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 Red
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
    Green PIGQ in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.11
    Latest signed off version: v8.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
    Green PIGQ in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548
    Green PIGQ in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    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
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548