Hyperammonaemia

Gene: GBA

Red List (low evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

Infants presenting with fetal / neoatal ascites can have mildly elevated ammonia;hyperammonaemia is not the main presenting feature
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocerbrosidase deficiency, Gaucher disease

History Filter Activity

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GBA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory