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Prepair 1000+

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 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital muscular dystrophy with or without seizures
Characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy.
At least three families reported with a muscular dystrophy presentation as well as seizures.

Progressive myoclonic epilepsy-6
Neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Founder variant has been reported: c.430G>T, p.Gly144Trp.

From Clingen curation (16/04/2024) - Some individuals not homozygous for the founder variant (i.e. either two non-founder variants or compound heterozygotes with a single founder variant) also present with muscular dystrophy and/or changes on muscle biopsy. Two phenotypes are therefore grouped by ClinGen (as progressive myoclonus epilepsy) as there is no reported difference in disease mechanism. Also large phenotypic overlap between individuals who are homozygous for the founder variant.
Created: 31 Oct 2024, 12:48 a.m. | Last Modified: 31 Oct 2024, 12:48 a.m.
Panel Version: 1.521

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 6 MIM#614018
  • Muscular dystrophy, congenital, with or without seizures MIM#620166
OMIM
604027
Clinvar variants
Variants in GOSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6, 614018 (3) to Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GOSR2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GOSR2 was added gene: GOSR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)