06 Aug 2019
Early onset or syndromic epilepsy v1.191
C12orf57
Rebecca Foulger Source Wessex and West Midlands GLH was added to C12orf57.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
C12orf57
Rebecca Foulger Source NHS GMS was added to C12orf57.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
C12orf57
Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
12 Nov 2018
Early onset or syndromic epilepsy v0.755
C12orf57
Sarah Leigh Marked gene: C12orf57 as ready
12 Nov 2018
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.
12 Nov 2018
Early onset or syndromic epilepsy v0.755
C12orf57
Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.755
C12orf57
Sarah Leigh Classified gene: C12orf57 as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.755
C12orf57
Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.754
C12orf57
Sarah Leigh Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665
12 Nov 2018
Early onset or syndromic epilepsy v0.753
C12orf57
Sarah Leigh Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340
12 Nov 2018
Early onset or syndromic epilepsy v0.752
C12orf57
Sarah Leigh Publications for gene: C12orf57 were set to
12 Nov 2018
Early onset or syndromic epilepsy v0.751
C12orf57
Sarah Leigh Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
08 Aug 2018
Early onset or syndromic epilepsy
C12orf57
Zornitza Stark reviewed gene: C12orf57
25 Jun 2018
Early onset or syndromic epilepsy
C12orf57
Sarah Leigh Added gene to panel