Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Mandibulofacial Acrofacial dysostosis v0.13 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Mandibulofacial Acrofacial dysostosis v0.12 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.10 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSR2 was set to Unknown