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| Severe Paediatric Disorders v0.12 | SYNE1 | Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SYNE1 | Louise Daugherty Publications for gene SYNE1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SYNE1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SYNE1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SYNE1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SYNE1 | Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, myogenic type, 618484; Spinocerebellar ataxia, autosomal recessive 8, 610743; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SYNE1 |
Louise Daugherty Mode of inheritance for gene SYNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1 |
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| Severe Paediatric Disorders v0.7 | SYNE1 | Louise Daugherty Source Next Generation Children Project was added to SYNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SYNE1 |
Louise Daugherty Source Expert Review Green was added to SYNE1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SYNE1 |
Louise Daugherty gene: SYNE1 was added gene: SYNE1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SYNE1 was set to |
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