GPAA1

glycosylphosphatidylinositol anchor attachment 1
OMIM: 603048, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GPAA1 in Ataxia and cerebellar anomalies - narrow panel


Version 1.7

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.433
  • Cerebral malformations v3.1
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810

    Green GPAA1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.202

    Component of the following Super Panels:

  • Merge for Neurodegenerative disorders - adult onset v1.174
  • Merge for Ataxia and cerebellar anomalies - narrow panel v1.67
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810

    Red GPAA1 in Neurodegenerative disorders - adult onset


    Version 1.107

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810

    Amber GPAA1 in Fetal anomalies


    Version 0.348

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

    Amber GPAA1 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

    Green GPAA1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.907
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810

    Green GPAA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
    • global developmental delay

    Green GPAA1 in Hereditary ataxia - adult onset


    Version 1.211

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810