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Hereditary Spastic Paraplegia - paediatric

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Spasticity was a feature of the condition in 23.9% of an infantile cohort (n=135) with a clinical and genetic diagnosis of Alexander disease
Sources: Expert list
Created: 8 Jun 2023, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alexander disease MONDO:0008752

Publications

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

Created: 8 Jun 2023, 12:54 a.m.

Panel version: 1.64

History Filter Activity

8 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GFAP was added gene: GFAP was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFAP were set to 34146839 Phenotypes for gene: GFAP were set to Alexander disease MONDO:0008752 Review for gene: GFAP was set to GREEN gene: GFAP was marked as current diagnostic