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  3. SGSH
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Early onset or syndromic epilepsy

Gene: SGSH

Green List (high evidence)
SGSH (N-sulfoglucosamine sulfohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000181523
EnsemblGeneIds (GRCh37): ENSG00000181523
OMIM: 605270, Gene2Phenotype
SGSH is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Kept rating as Green.
Created: 25 Nov 2019, 9:15 p.m. | Last Modified: 25 Nov 2019, 9:15 p.m.
Panel Version: 1.464
Comment on list classification: Added SGSH to the panel with a Green rating: Green on the 'Inborn errors of metabolism' panel, and seizures are part of the MPS IIIA phenotype. Sufficient cases from the literature for inclusion on the panel.
Created: 28 Oct 2019, 11:13 a.m. | Last Modified: 28 Oct 2019, 11:13 a.m.
Panel Version: 1.393
PMID: 30593151 (Li et al., 2018) report an 8 year old female with developmental regression and seizures amongst her symptoms. She was diagnosed with autosomal recessive (AR) MPS IIIA with compound het variants in SGSH (c.1298G>A p.Arg433Gln and c.630 G>T p.Trp210Cys), inherited from each parent. The pathogenicity of c.630G>T has not been reported yet. c.1298G>A has been associated with MPS-IIIA previously.
Created: 28 Oct 2019, 11:12 a.m. | Last Modified: 28 Oct 2019, 11:12 a.m.
Panel Version: 1.392
PMID:21061399: Valstar et al. 2010 retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability but Epilepsy was reported in 53/80 patients with a median seizure age of 11 years (range, 1-43 years). Patients with a severe MPS IIIA phenotype developed epilepsy at a significantly earlier age compared to patients suffering from a more attenuated form of the disease.
Created: 28 Oct 2019, 11:12 a.m. | Last Modified: 28 Oct 2019, 11:12 a.m.
Panel Version: 1.392
Added SGSH to the panel based on Green rating on the 'Inborn errors of metabolism' panel: seizures are a part of the Mucopolysaccharidosis phenotype.
Sources: Literature, Other
Created: 28 Oct 2019, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900; seizures

Publications

Created: 28 Oct 2019, 11:12 a.m.

Panel version: 1.464

History Filter Activity

28 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sgsh has been classified as Green List (High Evidence).

28 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SGSH was added gene: SGSH was added to Genetic epilepsy syndromes. Sources: Literature,Other Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 21061399; 30593151 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900; seizures Review for gene: SGSH was set to GREEN