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Early onset or syndromic epilepsy v1.191 ATP7A Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP7A.
Early onset or syndromic epilepsy v1.190 ATP7A Rebecca Foulger Source NHS GMS was added to ATP7A.
Early onset or syndromic epilepsy v1.189 ATP7A Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ATP7A Tracy Lester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7842019, 21924848 ; Phenotypes: Menkes disease, 309400, Occipital horn syndrome, 304150, Spinal muscular atrophy, distal, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Marked gene: ATP7A as ready
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases of Menkes disease 309400 with seizures.
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Classified gene: ATP7A as Green List (high evidence)
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.693 ATP7A Sarah Leigh Publications for gene: ATP7A were set to
Early onset or syndromic epilepsy v0.692 ATP7A Sarah Leigh Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.691 ATP7A Sarah Leigh Phenotypes for gene: ATP7A were changed from to Menkes disease 309400
Early onset or syndromic epilepsy ATP7A Zornitza Stark reviewed gene: ATP7A
Early onset or syndromic epilepsy ATP7A Sarah Leigh Added gene to panel