PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1
OMIM: 601545, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PAFAH1B1 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly MIM#607432
    • Subcortical laminar heterotopia MIM#607432

    Green PAFAH1B1 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830
    Tags
    • SV/CNV

    Green PAFAH1B1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830

    Green PAFAH1B1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Lissencephaly 1, MIM# 607432
    • Subcortical laminar heterotopia, MIM# 607432
    • MONDO:0011830