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Genetic epilepsy syndromes

Gene: SYN1

Green List (high evidence)

SYN1 (synapsin I)
EnsemblGeneIds (GRCh38): ENSG00000008056
EnsemblGeneIds (GRCh37): ENSG00000008056
OMIM: 313440, Gene2Phenotype
SYN1 is in 5 panels

3 reviews

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491
OMIM
313440
Clinvar variants
Variants in SYN1
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 SYN1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SYN1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

21 Jun 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SYN1 were set to 23406870; 14985377; 21441247

21 Jun 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SYN1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: syn1 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SYN1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert list

21 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SYN1 was created by Sarah Leigh