Early onset or syndromic epilepsy
Gene: SYNJ1
AR Early infantile epileptic encepalopathy and also AR Early onset Parkinson disease. AR EIEE - early onset of intractable seizures in infancy, hypotonia and very poor /absent global development. 6 children from 3 unrelated families - hom or compound het variants in all affecteds. One mutation a missense significnatly rediced enzyme activity. Not found any variants when a further 543 epilepsy patients screened - Hardies et al 2016.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
Epileptic encephalopathy, early infantile, 617389; Parkinson disease 20, early-onset, 615530
Publications
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
Comment on list classification: Updated rating from Red to Green: 3 unrelated cases of infantile epileptic encephalopathy plus agreement from Arianna Tucci.Created: 12 Jun 2017, 11:43 a.m.
In 6 children from 3 unrelated families with early infantile epileptic encephalopathy-53 (MIM:617389), Hardies et al. (2016, PMID:27435091) identified homozygous or compound heterozygous mutations in the SYNJ1 gene.Created: 11 May 2017, 2:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 53, 617389
Publications
Source Wessex and West Midlands GLH was added to SYNJ1.
Source NHS GMS was added to SYNJ1.
Rebecca Foulger: In 6 children from 3 unrelated
Victorian Clinical Genetics Services was added to SYNJ1. Panel: Genetic Epilepsy Syndromes
SYNJ1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other
SYNJ1 was created by Sarah Leigh