1. Genes and Genomic Entities
  2. PIGM

PIGM

phosphatidylinositol glycan anchor biosynthesis class M
OMIM: 610273, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PIGM in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.8
Latest signed off version: v8.7 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, OMIM:610293
    Tags
    • promoter
    • non-coding-known-pathogenic
    Green PIGM in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, OMIM:610293
    Tags
    • promoter
    • curated-variant-list
    • non-coding-known-pathogenic
    Green PIGM in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, OMIM:610293
    Tags
    • non-coding-known-pathogenic
    • promoter
    Amber PIGM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Glycosylphosphatidylinositol deficiency
    Red PIGM 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
    • Glycosylphosphatidylinositol deficiency
    Green PIGM in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, OMIM:610293
    Tags
    • promoter
    • non-coding-known-pathogenic
    Red PIGM in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH