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Genetic epilepsy syndromes

Gene: SYNGAP1

Green List (high evidence)

SYNGAP1 (synaptic Ras GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000197283
EnsemblGeneIds (GRCh37): ENSG00000197283
OMIM: 603384, Gene2Phenotype
SYNGAP1 is in 6 panels

6 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)

AD mental retardation type 5 - most patients develop variable types of seizures as well as the moderate to severe MR and autism. Lots of reported cases on OMIM and HGMD Pro
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, 612621

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 5

Publications

  • Hamden et al (2009) N Engl J Med 360: 599-605

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 5

Publications

  • Hamden et al (2009) N Engl J Med 360: 599-605

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 5

Publications

  • Hamden et al (2009) N Engl J Med 360: 599-605

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 5

Publications

  • Hamden et al (2009) N Engl J Med 360: 599-605

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 5
OMIM
603384
Clinvar variants
Variants in SYNGAP1
Penetrance
None
Publications
  • Hamden et al (2009) N Engl J Med 360: 599-605
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 SYNGAP1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SYNGAP1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Seizures listed as a clinical

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SYNGAP1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SYNGAP1 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SYNGAP1 was created by Sarah Leigh