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| Muscular dystrophy and myopathy_Paediatric v0.123 | GOSR2 | Zornitza Stark Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6 614018 to Muscular dystrophy, congenital, with or without seizures, MIM# 620166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.92 | GOSR2 | Bryony Thompson Classified gene: GOSR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.92 | GOSR2 | Bryony Thompson Added comment: Comment on list classification: Additional cases reported with muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.92 | GOSR2 | Bryony Thompson Gene: gosr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.91 | GOSR2 | Bryony Thompson reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34167170, 33639315, 33639315, 29855340, DOI:https://doi.org/10.1016/j.nmd.2013.06.404; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, congenital muscluar dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.43 | GOSR2 | Zornitza Stark Marked gene: GOSR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.43 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.43 | GOSR2 | Zornitza Stark Classified gene: GOSR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.43 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | GOSR2 | Elena Savva reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30363482, 29855340; Phenotypes: Epilepsy, progressive myoclonic 6 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | GOSR2 | Elena Savva Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | GOSR2 |
Elena Savva gene: GOSR2 was added gene: GOSR2 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to PMID: 30363482; 29855340 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6 614018 Added comment: PMID: 30363482 - 1 chet patient, no mention of myopathy or muscular dystrophy. Patient had a missense and inframe deletion of a single amino acid. PMID: 29855340 - 1 chet family (2 siblings) with neonatal hypotonia, muscle weaknes and elevated CK levels. One sibling died before genotyping, the other was found to be chet for a missense/start loss variant. Patient had dystrophic muscle biopsy with hypoglycosylation of α-dystroglycan Paper reviews other patients and notes muscle histology and EMG were normal, no specific abnormalities reported (most carried recurring variant p.Gly144Trp). Summary: single report of muscular dystrophy but only report of a start loss variant. All others are of an inframe deletion or the recurring missense. Sources: Expert list |
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