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DDG2P v3.12 SC5D Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 SC5D Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other
Publications for gene: SC5D were updated from to 12189593; 12812989
DDG2P v0.2 SC5D Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SC5D Rebecca Foulger gene: SC5D was added
gene: SC5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS 607330
Mode of pathogenicity for gene: SC5D was set to Other - please provide details in the comments