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| Severe Paediatric Disorders v1.5 | SMARCD1 | Eleanor Williams Phenotypes for gene: SMARCD1 were changed from Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand to Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand; Coffin-Siris syndrome 11, 618779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | SMARCD1 | Louise Daugherty reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SMARCD1 | Louise Daugherty Publications for gene SMARCD1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SMARCD1 | Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SMARCD1 | Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SMARCD1 | Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SMARCD1 | Louise Daugherty Added phenotypes Abnormality of the hand; Intellectual disability; Global developmental delay; Feeding difficulties; Generalized hypotonia; Abnormality of the foot for gene: SMARCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SMARCD1 |
Louise Daugherty Mode of inheritance for gene SMARCD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1 |
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| Severe Paediatric Disorders v0.7 | SMARCD1 | Louise Daugherty Source Next Generation Children Project was added to SMARCD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SMARCD1 |
Louise Daugherty Source Expert Review Green was added to SMARCD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SMARCD1 |
Louise Daugherty gene: SMARCD1 was added gene: SMARCD1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMARCD1 was set to |
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