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GOSR2

golgi SNAP receptor complex member 2
OMIM: 604027, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GOSR2 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.22 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 6, 614018
Green GOSR2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Epilepsy, progressive myoclonic 6, 614018
Green GOSR2 in Congenital muscular dystrophy Level 2: Neurology Version 7.26 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Red GOSR2 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Epilepsy, progressive myoclonic 6, 614018
Red GOSR2 in Monogenic hearing loss Level 2: Audiology Version 6.34 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes hearing loss, autosomal recessive, MONDO:0019588
Green GOSR2 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.56 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Red GOSR2 in Intellectual disability Level 2: Developmental disorders Version 10.98 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, progressive myoclonic 6, 614018
Green GOSR2 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018
Red GOSR2 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.13 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources Expert Review Red London North GLH