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  3. GFAP
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Fetal anomalies

Gene: GFAP

Green List (high evidence)
GFAP (glial fibrillary acidic protein)
EnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

from genereviews:

Alexander disease is a progressive disorder of cerebral white matter and comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults.

Some features of the neonate form includes:
- Megalencephaly with frontal bossing
- Occasional hydrocephalus secondary to aqueductal stenosis
Created: 6 Dec 2021, 2:20 a.m. | Last Modified: 6 Dec 2021, 2:20 a.m.
Panel Version: 0.960

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alexander disease MIM#203450

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Dec 2021, 2:20 a.m.
Last Modified: 6 Dec 2021, 2:20 a.m.
Panel version: 0.960

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfap has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GFAP were changed from ALEXANDER DISEASE to Alexander disease MIM#203450

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GFAP were set to

6 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GFAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GFAP was added gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to ALEXANDER DISEASE