Hydrops fetalis

Gene: GUSB

Green List (high evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hydrops reported.
Created: 25 Mar 2022, 3:12 a.m. | Last Modified: 25 Mar 2022, 3:12 a.m.
Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662

Publications

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Well established gene-disease association.
Mucopolysaccharidosis (MPS) type VII, or Sly syndrome (MIM 253220), is a very rare, autosomal recessive, inherited lysosomal storage disorder with an estimated overall frequency between 1/300,000 and 1/2,000,000.

The presence of unprocessed multiple pseudogenes requires particular attention in diagnostic mutation analysis.
Created: 24 Mar 2022, 11:23 p.m. | Last Modified: 24 Mar 2022, 11:23 p.m.
Panel Version: 0.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662

Publications

History Filter Activity

25 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662

25 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUSB were set to

25 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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