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| Severe Paediatric Disorders v1.32 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | SMC1A | Louise Daugherty reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SMC1A | Louise Daugherty Publications for gene SMC1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SMC1A | Louise Daugherty Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SMC1A | Louise Daugherty Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SMC1A | Louise Daugherty Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SMC1A | Louise Daugherty Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SMC1A |
Louise Daugherty Mode of inheritance for gene SMC1A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A |
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| Severe Paediatric Disorders v0.7 | SMC1A | Louise Daugherty Source Next Generation Children Project was added to SMC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SMC1A |
Louise Daugherty Source Expert Review Green was added to SMC1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SMC1A |
Louise Daugherty gene: SMC1A was added gene: SMC1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMC1A was set to |
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