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DDG2P v3.12 | SOX5 | Achchuthan Shanmugasundram reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290657, 36861937; Phenotypes: 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SOX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX5. Publications for gene: SOX5 were updated from 22290657 to 36861937; 22290657 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v0.2 | SOX5 | Rebecca Foulger reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SOX5 |
Rebecca Foulger gene: SOX5 was added gene: SOX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX5 were set to 22290657 Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY |