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Early onset or syndromic epilepsy v1.191 COL4A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to COL4A2.
Early onset or syndromic epilepsy v1.190 COL4A2 Rebecca Foulger Source NHS GMS was added to COL4A2.
Early onset or syndromic epilepsy v1.189 COL4A2 Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COL4A2 Tracy Lester reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22209246; Phenotypes: Porencephaly, 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Marked gene: COL4A2 as ready
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Classified gene: COL4A2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.794 COL4A2 Sarah Leigh Publications for gene: COL4A2 were set to
Early onset or syndromic epilepsy v0.793 COL4A2 Sarah Leigh Phenotypes for gene: COL4A2 were changed from to Porencephaly 2 614483
Early onset or syndromic epilepsy v0.792 COL4A2 Sarah Leigh Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy COL4A2 Zornitza Stark reviewed gene: COL4A2
Early onset or syndromic epilepsy COL4A2 Sarah Leigh Added gene to panel