Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.36 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 27380894
Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM# 301014
Review for gene: MBTPS2 was set to AMBER
Added comment: Two unrelated families reported with multiple male affected individuals.
Sources: Expert list