Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071 to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy_CMT - isolated v0.152 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.151 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, MIM# 606071, Neuronopathy, distal hereditary motor, type VIII, MIM# 600175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.0 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071