Paediatric or syndromic cardiomyopathy
Gene: HGSNAT
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
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
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
Publications for gene: HGSNAT were set to 27604308
Source NHS GMS was added to HGSNAT. Source Expert Review Amber was added to HGSNAT. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Retinitis Pigmentosa 73; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930