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Early onset or syndromic epilepsy v1.191 MOCS1 Rebecca Foulger Source Wessex and West Midlands GLH was added to MOCS1.
Early onset or syndromic epilepsy v1.190 MOCS1 Rebecca Foulger Source NHS GMS was added to MOCS1.
Early onset or syndromic epilepsy v1.189 MOCS1 Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.559 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A 252150
Early onset or syndromic epilepsy v0.558 MOCS1 Sarah Leigh Mode of inheritance for gene: MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Marked gene: MOCS1 as ready
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.
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy MOCS1 Zornitza Stark reviewed gene: MOCS1
Early onset or syndromic epilepsy MOCS1 Sarah Leigh Added gene to panel