Early onset or syndromic epilepsy
Gene: SGSH
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, OtherCreated: 28 Oct 2019, 11:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900; seizures
Publications
Gene: sgsh has been classified as Green List (High Evidence).
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