Hereditary ataxia
Gene: GOSR2EnsemblGeneIds (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 phenotypeCreated: 16 Nov 2018, 1:45 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:50 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Good evidence in litCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Epilepsy, progressive myoclonic 6, 614018
- OMIM
- 604027
- Clinvar variants
- Variants in GOSR2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Congenital muscular dystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
History Filter Activity
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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: GOSR2 were set to
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GOSR2 were changed from to Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GOSR2 was added to Hereditary ataxiapanel. Sources: UKGTN