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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
Early onset or syndromic epilepsy v1.191 PAFAH1B1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PAFAH1B1.
Early onset or syndromic epilepsy v1.190 PAFAH1B1 Rebecca Foulger Source NHS GMS was added to PAFAH1B1.
Early onset or syndromic epilepsy v1.189 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Marked gene: PAFAH1B1 as ready
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.
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1 607432
Early onset or syndromic epilepsy v0.871 PAFAH1B1 Eleanor Williams Publications for gene: PAFAH1B1 were set to
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
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Classified gene: PAFAH1B1 as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.868 PAFAH1B1 Eleanor Williams commented on gene: PAFAH1B1
Early onset or syndromic epilepsy PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1
Early onset or syndromic epilepsy PAFAH1B1 Sarah Leigh Added gene to panel