Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Classified gene: DTYMK as Amber List (moderate evidence)
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1884 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Review for gene: DTYMK was set to AMBER
Added comment: Four individuals from three families reported. Two individuals had seizures (febrile seizures in one and myoclonic jerks in the other).
Sources: Expert Review