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DDG2P v3.12 | EIF2S3 | Achchuthan Shanmugasundram reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063529, 27333055; Phenotypes: Syndromic ID with severe microcephaly; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | EIF2S3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EIF2S3. Publications for gene: EIF2S3 were updated from 27333055; 23063529 to 23063529; 27333055 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v0.2 | EIF2S3 | Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EIF2S3 |
Rebecca Foulger gene: EIF2S3 was added gene: EIF2S3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF2S3 were set to 27333055; 23063529 Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly |