This Panel is marked as Retired
Epileptic encephalopathy
Gene: SYNJ1
SYNJ1 (synaptojanin 1)
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 7 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