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Hereditary Spastic Paraplegia - adult onset

Gene: GBE1

Green List (high evidence)
GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease.
Sources: Expert list
Created: 17 Jun 2020, 5:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body disease, adult form MIM#263570

Publications

Created: 17 Jun 2020, 5:45 a.m.

Panel version: 0.18

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gbe1 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gbe1 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GBE1 was added gene: GBE1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23034915 Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570 Review for gene: GBE1 was set to GREEN