Paediatric or syndromic cardiomyopathy

Gene: HGSNAT

I don't know

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

Red List (low evidence)

Gene is associated with mucopolysaccharidosis MPS type III-C (Sanfilippo C). Cardiomyopathy has been described on one occasion as a presenting feature but in a 39 year old (PMID 21048366).

Created: 26 Nov 2019, 10:53 a.m. | Last Modified: 26 Nov 2019, 10:54 a.m.

Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis pigmentosa 73, 616544

Publications

• 21048366

Green List (high evidence)

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 IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis Type III; Retinitis Pigmentosa 73

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