Hydrocephalus

Gene: GUSB

Green List (high evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases for causation. Macrocephaly is a feature. Therefore included. Note variable (fetal hydrops through to later childhood) and multi-system presentation however.
Created: 4 May 2017, 9:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VII 253220

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis VII 253220
OMIM
611499
Clinvar variants
Variants in GUSB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GUSB.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for GUSB were set to Mucopolysaccharidosis VII 253220

9 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for GUSB were set to 12403825; 12522561

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

GUSB was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GUSB was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen