Hydrops fetalis

Gene: GBA

Green List (high evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 24 panels

1 review

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Well established gene-disease association with Gaucher disease and there is evidence of links between lysosomal storage disorders and non-immune fetal hydrops (NIHF). A systematic review of monogenic etiologies of nonimmune hydrops (PMID:33082562 lists GBA as gene with more than one reported NIHF cases.
Created: 11 Apr 2022, 1:08 a.m. | Last Modified: 11 Apr 2022, 1:08 a.m.
Panel Version: 0.245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAUCHER DISEASE; MIM: 608013

Publications

History Filter Activity

13 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal,MIM# 608013

13 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA were set to

13 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GBA was added gene: GBA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GBA was set to Unknown