Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.8 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: HUS is a described feature of this metabolic condition.
Sources: Expert list