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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)
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