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Epileptic encephalopathy

Gene: SYNJ1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

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
  • Expert Review Green
  • Other
Phenotypes
  • Epileptic encephalopathy, early infantile, 53, 617389
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SYNJ1 was created by rfoulger

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SYNJ1 was added to Epileptic encephalopathypanel. Sources: Other