21 Dec 2022
Early onset or syndromic epilepsy v3.18
PAFAH1B1
Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from Lissencephaly 1 607432 to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PAFAH1B1
Rebecca Foulger Source Wessex and West Midlands GLH was added to PAFAH1B1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PAFAH1B1
Rebecca Foulger Source NHS GMS was added to PAFAH1B1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PAFAH1B1
Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PAFAH1B1
Tracy Lester reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11502906, 11754098 ; Phenotypes: Lissencephaly, 607432, Subcortical laminar heterotopia, 607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Nov 2018
Early onset or syndromic epilepsy v0.872
PAFAH1B1
Eleanor Williams Marked gene: PAFAH1B1 as ready
14 Nov 2018
Early onset or syndromic epilepsy v0.872
PAFAH1B1
Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with PAFAH1B1 variants in Lissencephaly 1 and reports of seizures.
14 Nov 2018
Early onset or syndromic epilepsy v0.872
PAFAH1B1
Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.872
PAFAH1B1
Eleanor Williams Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1 607432
14 Nov 2018
Early onset or syndromic epilepsy v0.871
PAFAH1B1
Eleanor Williams Publications for gene: PAFAH1B1 were set to
14 Nov 2018
Early onset or syndromic epilepsy v0.870
PAFAH1B1
Eleanor Williams Mode of inheritance for gene: PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Nov 2018
Early onset or syndromic epilepsy v0.869
PAFAH1B1
Eleanor Williams Classified gene: PAFAH1B1 as Green List (high evidence)
14 Nov 2018
Early onset or syndromic epilepsy v0.869
PAFAH1B1
Eleanor Williams Added comment: Comment on list classification: Numerous cases of variants in the PAFAH1B1 gene in patients with Lissencephaly 1 and reporting seizures.
14 Nov 2018
Early onset or syndromic epilepsy v0.869
PAFAH1B1
Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.868
PAFAH1B1
Eleanor Williams commented on gene: PAFAH1B1
18 Aug 2018
Early onset or syndromic epilepsy
PAFAH1B1
Zornitza Stark reviewed gene: PAFAH1B1
25 Jun 2018
Early onset or syndromic epilepsy
PAFAH1B1
Sarah Leigh Added gene to panel