Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Vitamin metabolism disorders v0.36 MMADHC Bryony Thompson Tag treatable tag was added to gene: MMADHC.
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Vitamin metabolism disorders v0.30 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Vitamin metabolism disorders v0.20 MMADHC Bryony Thompson Deleted their review
Vitamin metabolism disorders v0.9 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 27604308; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMADHC was set to GREEN
gene: MMADHC was marked as current diagnostic
Added comment: Sources: Literature