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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 |