Early onset or syndromic epilepsy

Gene: SYN1

I don't know

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: Green.

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

Panel Version: 1.189

Green List (high evidence)

X-linked epilepsy with variable learning disabilities and behaviour disorders. Garcia et al, 2004- 4 generation kindred all seemed to have seizures as well as varying levels of normal intelligence to learning difficulties. Fassio et al, 2011 - French-Canadian family where 7 males over 3 generations had X-linked epilepsy with variable learning and behavioral disorders. Other variants/papers on HGMD Pro where SYN1 missense/nonesene variants have been reported in association with epilepsy.

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

Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epilepsy X-linked with variable learning disabilities and behavior disorders, 300491

Publications

• 21441247

Comment on mode of inheritance: Reported as both X-linked dominant and recessive in OMIM

Created: 21 Jun 2018, 11:27 a.m.

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 8 unrelated cases (male and female). Supportive functional studies also provided (PMID 23406870).

Created: 21 Jun 2018, 11:20 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491