PIGA

phosphatidylinositol glycan anchor biosynthesis class A
OMIM: 311770, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PIGA in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.92
Latest signed off version: v2.4 (4 Mar 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Emory Genetics Laboratory
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
    • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
    Tags
    • Skewed X-inactivation

    Red PIGA in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.172

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Paroxysmal nocturnal haemoglobinuria, somatic, 300818
    Tags
    • treatable
    • somatic
    • Skewed X-inactivation

    Red PIGA in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.106

    review Not set
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
    Tags
    • treatable
    • somatic
    • Skewed X-inactivation

    Green PIGA in Thrombophilia


    Version 1.22
    Latest signed off version: v1.2 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 300818 Paroxysmal nocturnal hemoglobinuria, somatic
    Tags
    • Skewed X-inactivation

    Green PIGA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
    Tags
    • Skewed X-inactivation

    Green PIGA in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
    • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
    Tags
    • Skewed X-inactivation

    Green PIGA in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
    Tags
    • Skewed X-inactivation

    Green PIGA in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868
    Tags
    • Skewed X-inactivation

    Red PIGA in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
    • MCAHS2
    Tags
    • Skewed X-inactivation

    Green PIGA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
    Tags
    • Skewed X-inactivation

    Green PIGA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
    • MCAHS2
    Tags
    • Skewed X-inactivation

    Red PIGA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • Skewed X-inactivation

    Green PIGA in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
    Tags
    • Skewed X-inactivation