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Early onset or syndromic epilepsy v2.511 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1 267750 to Knobloch syndrome, type 1, OMIM:267750
Early onset or syndromic epilepsy v2.510 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to 19160445; 28602933; 28950998
Early onset or syndromic epilepsy v1.191 COL18A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to COL18A1.
Early onset or syndromic epilepsy v1.190 COL18A1 Rebecca Foulger Source NHS GMS was added to COL18A1.
Early onset or syndromic epilepsy v1.189 COL18A1 Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COL18A1 Tracy Lester reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19160445; Phenotypes: Knobloch syndrome, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Marked gene: COL18A1 as ready
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 truncating variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Classified gene: COL18A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.781 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Early onset or syndromic epilepsy v0.778 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750
Early onset or syndromic epilepsy v0.777 COL18A1 Sarah Leigh Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy COL18A1 Zornitza Stark reviewed gene: COL18A1
Early onset or syndromic epilepsy COL18A1 Sarah Leigh Added gene to panel