Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 | MUSK | Zornitza Stark Marked gene: MUSK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 | MUSK | Zornitza Stark Gene: musk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 | MUSK | Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.35 | MUSK | Zornitza Stark Publications for gene: MUSK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.34 | MUSK | Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 | MUSK | Zornitza Stark edited their review of gene: MUSK: Changed phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 | MUSK | Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 | MUSK |
Zornitza Stark gene: MUSK was added gene: MUSK was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MUSK was set to Unknown |