Paediatric or syndromic cardiomyopathy
Gene: SGSHEnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Ellen McDonagh (Genomics England Curator)
The guideline includes MPS type I (Hurler), other MPS disorders in Table 1, and the diagnostic test Leukocyte MPS enzymes, genetic analysis for this. Green genes on the Mucopolysaccharideosis, Gaucher, Fabry (Version 1.2) gene panel version 1.2 (code 75) that included a Mucopolysaccharidosis phenotype were added to this panel to represent the genes that would be included on the test from the guideline.Created: 30 Apr 2019, 4:48 p.m.
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 30 Apr 2019, 4:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A
Publications
- National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- MetBioNet
- MetBioNet
- Phenotypes
-
- Mucopolysaccharidosis, Type III
- MUCOPOLYSACCHARIDOSIS TYPE 3A
- MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IIIA
- OMIM
- 605270
- Clinvar variants
- Variants in SGSH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SGSH. Source Expert Review Amber was added to SGSH. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SGSH was added gene: SGSH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIA