PanelApp
  1. Genes and Genomic Entities
  2. GFAP

GFAP

glial fibrillary acidic protein
OMIM: 137780, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red GFAP in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.407

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Alexander disease, MIM#203450

Green GFAP in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.134

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GFAP in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.161

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GFAP in Mendeliome


Version 1.4215

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alexander disease, MIM# 203450

Green GFAP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.362

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Alexander disease, MIM# 203450

    Green GFAP in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.602

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GFAP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Alexander disease MONDO:0008752

    Green GFAP in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Alexander disease, 203450
    • Autosomal Dominant Ataxia
    • Alexander disease

    Green GFAP in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alexander disease, MIM# 203450

    Green GFAP in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.139

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alexander disease MONDO:0008752

    Green GFAP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Alexander disease

    Green GFAP in Fetal anomalies


    Version 1.522

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Alexander disease MIM#203450

    Amber GFAP in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Alexander disease, MIM#203450
    Tags
    • clinical trial