GFAP

glial fibrillary acidic protein
OMIM: 137780, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green GFAP in Hydrocephalus


Version 2.1

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 1.11

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 2.0

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 1.0

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 1.202

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 1.71

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 2.0

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 1.0

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

Green GFAP in DDG2P


Version 2.0

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 2.0

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 3.0

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 2.0

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 1.0

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 1.0

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