Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Skeletal dysplasia v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373