Hydrops fetalis
Gene: GUSB
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
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
Gene: gusb has been classified as Green List (High Evidence).
Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Publications for gene: GUSB were set to
Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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