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Osteopetrosis v0.34 | AMER1 | Sangavi Sivagnanasundram reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27369646, 33856753, 35186393; Phenotypes: osteopathia striata with cranial sclerosis MONDO:0010310; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.0 | AMER1 |
Zornitza Stark gene: AMER1 was added gene: AMER1 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMER1 was set to Unknown |