Hydrocephalus
Gene: GUSBEnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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)
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, OMIM:253220
- OMIM
- 611499
- Clinvar variants
- Variants in GUSB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hydrocephalus
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII, OMIM:253220
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GUSB.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for GUSB were set to Mucopolysaccharidosis VII 253220
Set publications
Helen Brittain (Genomics England Curator)Publications for GUSB were set to 12403825; 12522561
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Olivia Niblock (Genomics England Curator)GUSB was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)GUSB was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen