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Additional findings_Paediatric

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels

0 reviews

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Gangliosidosis GM1 for gene: GLB1

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLB1 was added gene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1