06 Aug 2019
Early onset or syndromic epilepsy v1.191
ATP7A
Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP7A.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
ATP7A
Rebecca Foulger Source NHS GMS was added to ATP7A.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
ATP7A
Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
12 Nov 2018
Early onset or syndromic epilepsy v0.694
ATP7A
Sarah Leigh Marked gene: ATP7A as ready
12 Nov 2018
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.
12 Nov 2018
Early onset or syndromic epilepsy v0.694
ATP7A
Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.694
ATP7A
Sarah Leigh Classified gene: ATP7A as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.694
ATP7A
Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.693
ATP7A
Sarah Leigh Publications for gene: ATP7A were set to
12 Nov 2018
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
12 Nov 2018
Early onset or syndromic epilepsy v0.691
ATP7A
Sarah Leigh Phenotypes for gene: ATP7A were changed from to Menkes disease 309400
07 Aug 2018
Early onset or syndromic epilepsy
ATP7A
Zornitza Stark reviewed gene: ATP7A
25 Jun 2018
Early onset or syndromic epilepsy
ATP7A
Sarah Leigh Added gene to panel