Early onset or syndromic epilepsy

Gene: LYST

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.

Created: 15 Aug 2019, 9:32 a.m. | Last Modified: 15 Aug 2019, 9:32 a.m.

Panel Version: 1.225

Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although the mouse model displays seizures (PMID:16518687), there is limited evidence of patients with seizures (no mention of seizures in PMID:9215679, and one 1990 report of Chédiak-Higashi syndrome with seizures from PMID:10450360). Therefore consider demoting LYST.

Created: 15 Aug 2019, 9:32 a.m. | Last Modified: 15 Aug 2019, 10:29 a.m.

Panel Version: 1.236

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

I don't know

AR Chediak-Higashi syndrome, although it mentions seizures as a feature in OMIM I can't find any mention of it in the patients phenotype in OMIM or in references from HGMD Pro.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome, 214500

Publications

• 10648412

Green List (high evidence)

Comment on list classification: Associated with relevant phenotypes (which include seizures) in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants reported in unrelated cases, seven in childhood onset Chediak-Higashi syndrome 214500 and three in adult onset cases.

Created: 23 Jul 2018, 1:27 p.m.

This gene was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID and also in the Victorian Clinical Genetics Services panels for Intellectual disability and Immunological disorders.

Created: 23 Jul 2018, 1:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome 214500