Activity

Filter

Cancel
Date Panel Item Activity
3 actions
DDG2P v3.12 HMGB3 Achchuthan Shanmugasundram reviewed gene: HMGB3: Rating: RED; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v0.2 HMGB3 Rebecca Foulger reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 HMGB3 Rebecca Foulger gene: HMGB3 was added
gene: HMGB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 24993872
Phenotypes for gene: HMGB3 were set to Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature