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Genetic epilepsy syndromes

Gene: GOSR2

Green List (high evidence)

GOSR2 (golgi SNAP receptor complex member 2)
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 8 panels

8 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)

AR progressive myoclonic epilepsy 6 - onset of ataxia in first few years of life follwed by action myoclonis and seizures later in childhood. Corbett et al, 2011, 6 patients including 2 sibs - early childhood onset of progressive myoclonic epilepsy - all had seizures of some sort all had the same hom LOF missese variant G144W - haplotype analysis indicate a founder effect. Van Egmond et al, 2014 - 5 additional Dutch patients with EPM6 all had onset betwen the ages of 2-3 and 4/5 developed seizures in the first decade - all hom for G144W. Praschberger et al, 2015 - developed epilepsy around the age of 14, milder course than prev reported patients - compound het for G144W and a novel inframe del. Seizures common feature. Volker et al, 2017 - functional work on G144W and Lys164 del variants.
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
Epilepsy, progressive myoclonic, 614018

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

added founder-effect tag. Even though there is a founder effect in this population, there is further evidence for it being the gene of interest by the fact that there is more than one variant identified so supports a green rating on the current evidence.
Created: 16 Nov 2018, 3:07 p.m.
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Created: 16 Nov 2018, 2:59 p.m.
External review notes that there are Corbett et al., 2011 (PMID: 21549339) reported five unrelated individuals reported with bi-allelic variants and denoted a founder effect.
To date, 17 reported patients with GOSR2‐mediated Progressive myoclonic epilepsy have been shown to carry the same homozygous c.430G>T (p.G144W) mutation, the result of a founder effect 21549339, 23449775, 24458321. However, Praschberger et al., (2015) PMID: 30363482 described a 61‐year‐old female patient suffering from progressive myoclonus epilepsy and was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation.
Created: 16 Nov 2018, 2:59 p.m.
Comment on publications: Added publications suggested from external expert review and additional publications to support upgrading of the gene to Green
Created: 16 Nov 2018, 1:41 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 16 Nov 2018, 9:35 a.m.
Comment on mode of inheritance: added MOI suggested by external review, confirmed with OMIM/publications
Created: 16 Nov 2018, 9:34 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported with bi-allelic variants in this gene, founder effect.
Created: 14 Aug 2018, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6, MIM#614018

Publications

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
founder-effect
OMIM
604027
Clinvar variants
Variants in GOSR2
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 GOSR2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GOSR2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Five unrelated individuals rep

16 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gosr2 has been classified as Green List (High Evidence).

16 Nov 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag founder-effect tag was added to gene: GOSR2.

16 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gosr2 has been classified as Green List (High Evidence).

16 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321; 27618868

16 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321

16 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GOSR2 were set to

16 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, 614018

16 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GOSR2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to GOSR2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GOSR2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GOSR2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GOSR2 was created by Sarah Leigh