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Fetal anomalies

Gene: GBA

Green List (high evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple reports of perinatal lethal cases. IUGR, hydrops, polyhydramnios, decreased fetal movements.
Created: 5 Jan 2022, 1:40 a.m. | Last Modified: 5 Jan 2022, 1:40 a.m.
Panel Version: 0.1833

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaucher disease, perinatal lethal, MIM# 608013

Publications

History Filter Activity

5 Jan 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).

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GBA were set to 30712880

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBA were changed from GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE to Gaucher disease, perinatal lethal, MIM# 608013

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GBA was added gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 30712880 Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE