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Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Marked gene: TWNK as ready
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Classified gene: TWNK as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.197 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 31455269; 19353676
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
Review for gene: TWNK was set to AMBER
Added comment: Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants.
Sources: Expert list