Activity
Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.148 | YARS | Zornitza Stark Marked gene: YARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.148 | YARS | Zornitza Stark Gene: yars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.148 | YARS | Zornitza Stark Phenotypes for gene: YARS were changed from Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.147 | YARS | Zornitza Stark Publications for gene: YARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.146 | YARS | Zornitza Stark Mode of inheritance for gene: YARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.145 | YARS | Zornitza Stark reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 16429158, 24354524, 31587308, 26725087; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.0 | YARS |
Bryony Thompson gene: YARS was added gene: YARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN |