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| DDG2P v3.12 | SMARCD1 | Achchuthan Shanmugasundram reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30879640; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.130 | SMARCD1 | Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | SMARCD1 |
Rebecca Foulger gene: SMARCD1 was added gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments |
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