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  3. GUSB
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Mucopolysaccharideosis, Gaucher, Fabry

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene, with a green review and is a confirmed gene on G2P for this phenotype. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 5:59 p.m.
Created: 29 Feb 2016, 5:59 p.m.

Panel version: 0.5

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII

Created: 10 Feb 2016, 11:36 a.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis VII, 253220
  • Mucopolysaccharidosis, Type VII
  • Mucopolysaccharidosis Type VII
  • MUCOPOLYSACCHARIDOSIS TYPE 7
OMIM
611499
Clinvar variants
Variants in GUSB
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; Mucopolysaccharidosis Type VII; MUCOPOLYSACCHARIDOSIS TYPE 7

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GUSB was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene GUSB was changed to BIALLELIC, autosomal or pseudoautosomal

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GUSB was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GUSB was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen