Hereditary ataxia

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 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Publications added support gene-disease association and rating of this gene to Green. Variants of GOSR2 are classified as causing less common Autosomal Recessive Hereditary Ataxias (i.e. reported in 1-5 families)
Created: 16 Nov 2018, 1:50 p.m.
Comment on phenotypes: Added missing phenotype
Created: 16 Nov 2018, 1:45 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:50 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Good evidence in lit
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

16 Nov 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GOSR2 were changed from Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018 to Epilepsy, progressive myoclonic 6, 614018

16 Nov 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GOSR2 were set to

16 Nov 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GOSR2 were changed from to Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GOSR2 was added to Hereditary ataxiapanel. Sources: UKGTN