Previous cardiomyopathies - including childhood onset
Gene: HGSNAT
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
Source MetBioNet was added to HGSNAT. Added phenotypes Mucopolysaccharidosis Type IIIC; Retinitis Pigmentosa 73; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type III for gene: HGSNAT
Eleanor Williams: Note: no phenotype in the sour
gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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 III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)