Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Marked gene: GPD1 as ready
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Classified gene: GPD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.176 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 32591995; 22226083; 33447932
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency
Review for gene: GPD1 was set to GREEN
gene: GPD1 was marked as current diagnostic
Added comment: At least 17 cases reported
Sources: NHS GMS