Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: SYNJ1

Green List (high evidence)

SYNJ1 (synaptojanin 1)
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 9 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

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
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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 53, 617389
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SYNJ1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SYNJ1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Rebecca Foulger: In 6 children from 3 unrelated

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SYNJ1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SYNJ1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SYNJ1 was created by Sarah Leigh