GFAP

glial fibrillary acidic protein
OMIM: 137780, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green GFAP in Hydrocephalus


Version 2.5
Signed off v.2.3 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alexander disease 203450

Green GFAP in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green GFAP in Ataxia and cerebellar anomalies - narrow panel


    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Autosomal Dominant Ataxia
    • Alexander disease

    Green GFAP in White matter disorders - adult onset


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Alexander disease, 203450

    Green GFAP in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autosomal Dominant Ataxia
    • Alexander disease

    Amber GFAP in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Alexander disease 203450

    Green GFAP in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.82

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Tags
    • dominant-negative

    Green GFAP in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Autosomal Dominant Ataxia
    • Alexander disease

    Green GFAP in Fetal anomalies


    Version 1.74
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALEXANDER DISEASE

    Green GFAP in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALEXANDER DISEASE 203450

    Green GFAP in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.143
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alexander disease, 203450
    • seizures

    Green GFAP in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.239
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alexander disease, 203450
    • ALEXANDER DISEASE

    Green GFAP in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal Dominant Ataxia
    • Alexander disease
    • Alexander disease, 203450

    Green GFAP in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Alexander disease 203450

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


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Alexander disease, 203450

    Green GFAP in Severe Paediatric Disorders


    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alexander disease, 203450