Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Leukodystrophy - adult onset v0.36 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Leukodystrophy - adult onset v0.36 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.16 STXBP2 Bryony Thompson gene: STXBP2 was added
gene: STXBP2 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
Review for gene: STXBP2 was set to RED
Added comment: There is no clear evidence that leukodystrophy is a prominent feature of the condition associated with this gene.
Sources: Expert list