Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Hereditary Neuropathy_CMT - isolated v1.34 DNAJB2 Elena Savva Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Hereditary Neuropathy_CMT - isolated v1.33 DNAJB2 Lauren Rogers reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881 to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.185 DNAJB2 Zornitza Stark Publications for gene: DNAJB2 were set to
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark edited their review of gene: DNAJB2: Changed phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881, MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522442, 25274842, 33369814, 22522442; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.0 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJB2 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881