| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1984 | ALG2 | Zornitza Stark Marked gene: ALG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1984 | ALG2 | Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1984 | ALG2 | Zornitza Stark Phenotypes for gene: ALG2 were changed from CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1983 | ALG2 | Zornitza Stark Classified gene: ALG2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1983 | ALG2 | Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1982 | ALG2 | Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | ALG2 |
John Coleman gene: ALG2 was added gene: ALG2 was added to Genetic Epilepsy. Sources: Literature,NHS GMS Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to (PMID:12684507; 28733338; 28007376) Phenotypes for gene: ALG2 were set to CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906 Review for gene: ALG2 was set to RED Added comment: Red list on NHS panel app. Literature search shows one case with reported seizures although limited phenotype given at 1 year, patient was normal at birth apart from coloboma (Thiel 2003). no other cases on pubmed or literature wider search. Phenotype appears to present with varying onset of myasthenic syndrome with myopathic features. ALG2 not specifically linked with epilepsy phenotype in the literature the way other CDGS are. Developmental delay also a neurodevelopmental feature. Sources: Literature, NHS GMS |
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