12 Apr 2022
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
12 Apr 2022
Early onset or syndromic epilepsy v2.510
COL18A1
Sarah Leigh Publications for gene: COL18A1 were set to 19160445; 28602933; 28950998
06 Aug 2019
Early onset or syndromic epilepsy v1.191
COL18A1
Rebecca Foulger Source Wessex and West Midlands GLH was added to COL18A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
COL18A1
Rebecca Foulger Source NHS GMS was added to COL18A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
COL18A1
Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
13 Nov 2018
Early onset or syndromic epilepsy v0.782
COL18A1
Sarah Leigh Marked gene: COL18A1 as ready
13 Nov 2018
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.
13 Nov 2018
Early onset or syndromic epilepsy v0.782
COL18A1
Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.782
COL18A1
Sarah Leigh Classified gene: COL18A1 as Green List (high evidence)
13 Nov 2018
Early onset or syndromic epilepsy v0.782
COL18A1
Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.781
COL18A1
Sarah Leigh Publications for gene: COL18A1 were set to
13 Nov 2018
Early onset or syndromic epilepsy v0.778
COL18A1
Sarah Leigh Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750
13 Nov 2018
Early onset or syndromic epilepsy v0.777
COL18A1
Sarah Leigh Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
10 Aug 2018
Early onset or syndromic epilepsy
COL18A1
Zornitza Stark reviewed gene: COL18A1
25 Jun 2018
Early onset or syndromic epilepsy
COL18A1
Sarah Leigh Added gene to panel