06 Aug 2019
Early onset or syndromic epilepsy v1.191
COL4A2
Rebecca Foulger Source Wessex and West Midlands GLH was added to COL4A2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
COL4A2
Rebecca Foulger Source NHS GMS was added to COL4A2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
COL4A2
Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
13 Nov 2018
Early onset or syndromic epilepsy v0.795
COL4A2
Sarah Leigh Marked gene: COL4A2 as ready
13 Nov 2018
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.
13 Nov 2018
Early onset or syndromic epilepsy v0.795
COL4A2
Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.795
COL4A2
Sarah Leigh Classified gene: COL4A2 as Green List (high evidence)
13 Nov 2018
Early onset or syndromic epilepsy v0.795
COL4A2
Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.794
COL4A2
Sarah Leigh Publications for gene: COL4A2 were set to
13 Nov 2018
Early onset or syndromic epilepsy v0.793
COL4A2
Sarah Leigh Phenotypes for gene: COL4A2 were changed from to Porencephaly 2 614483
13 Nov 2018
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
10 Aug 2018
Early onset or syndromic epilepsy
COL4A2
Zornitza Stark reviewed gene: COL4A2
04 Apr 2018
Early onset or syndromic epilepsy
COL4A2
Sarah Leigh Added gene to panel