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Early onset or syndromic epilepsy v1.191 COL4A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to COL4A1.
Early onset or syndromic epilepsy v1.190 COL4A1 Rebecca Foulger Source NHS GMS was added to COL4A1.
Early onset or syndromic epilepsy v1.189 COL4A1 Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COL4A1 Tracy Lester reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23225343; Phenotypes: Retinal arteries tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 607595, Porencephaly, 175780, Schizencephaly 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Marked gene: COL4A1 as ready
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Classified gene: COL4A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.786 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to
Early onset or syndromic epilepsy v0.785 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160
Early onset or syndromic epilepsy v0.783 COL4A1 Sarah Leigh Mode of inheritance for gene: COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy COL4A1 Zornitza Stark reviewed gene: COL4A1
Early onset or syndromic epilepsy COL4A1 Sarah Leigh Added gene to panel