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Early onset or syndromic epilepsy v1.191 C12orf57 Rebecca Foulger Source Wessex and West Midlands GLH was added to C12orf57.
Early onset or syndromic epilepsy v1.190 C12orf57 Rebecca Foulger Source NHS GMS was added to C12orf57.
Early onset or syndromic epilepsy v1.189 C12orf57 Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 C12orf57 Tracy Lester reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453666; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Marked gene: C12orf57 as ready
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in a total of 56 cases of which 41 had seizures as a phenotypic feature.
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Classified gene: C12orf57 as Green List (high evidence)
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.754 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665
Early onset or syndromic epilepsy v0.753 C12orf57 Sarah Leigh Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340
Early onset or syndromic epilepsy v0.752 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to
Early onset or syndromic epilepsy v0.751 C12orf57 Sarah Leigh Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy C12orf57 Zornitza Stark reviewed gene: C12orf57
Early onset or syndromic epilepsy C12orf57 Sarah Leigh Added gene to panel