06 Aug 2019
Early onset or syndromic epilepsy v1.191
MOCS1
Rebecca Foulger Source Wessex and West Midlands GLH was added to MOCS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
MOCS1
Rebecca Foulger Source NHS GMS was added to MOCS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
MOCS1
Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
MOCS1
Tracy Lester reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9921896; Phenotypes: Molybdenum cofactor deficiency A 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Nov 2018
Early onset or syndromic epilepsy v0.559
MOCS1
Sarah Leigh Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A 252150
07 Nov 2018
Early onset or syndromic epilepsy v0.558
MOCS1
Sarah Leigh Mode of inheritance for gene: MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Nov 2018
Early onset or syndromic epilepsy v0.557
MOCS1
Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
07 Nov 2018
Early onset or syndromic epilepsy v0.557
MOCS1
Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
16 Oct 2018
Early onset or syndromic epilepsy v0.505
MOCS1
Sarah Leigh Marked gene: MOCS1 as ready
16 Oct 2018
Early onset or syndromic epilepsy v0.505
MOCS1
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.
16 Oct 2018
Early onset or syndromic epilepsy v0.505
MOCS1
Sarah Leigh Gene: mocs1 has been classified as Amber List (Moderate Evidence).
16 Aug 2018
Early onset or syndromic epilepsy
MOCS1
Zornitza Stark reviewed gene: MOCS1
04 Apr 2018
Early onset or syndromic epilepsy
MOCS1
Sarah Leigh Added gene to panel