Hydrops fetalis
Gene: GUSBEnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mucopolysaccharidosis VII, MIM# 253220
- MONDO:0009662
- OMIM
- 611499
- Clinvar variants
- Variants in GUSB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gusb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GUSB were set to
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
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