Malformations of cortical development
Gene: PAFAH1B1Functional studies from mouse models show that PAFAH1B1 knockout severely perturbs cortical development (PMID:34635911).Created: 13 Dec 2022, 8:58 p.m. | Last Modified: 13 Dec 2022, 8:58 p.m.
Panel Version: 3.1
Publications
Comment when marking as ready: Eligibility statement gene. Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.Created: 1 Nov 2016, 12:19 p.m.
Prior genetic testing within the eligibility statement includes LIS1 which is a synonym for the HGNC-approved gene symbol PAFAH1B1, associated with the phenotype Lissencephaly 1 (LIS1, OMIM #607432). Phenotypes were sourced from OMIM. Mode of inheritance indicated by OMIM = "Isolated Cases".Created: 8 Jan 2016, 10:18 a.m.
Phenotypes for gene: PAFAH1B1 were changed from Lissencephaly 1 607432; Subcortical laminar heterotopia 607432 to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
Publications for gene: PAFAH1B1 were set to
This gene has been classified as Green List (High Evidence).
Promoted to Version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PAFAH1B1 were set to Lissencephaly 1 607432; Subcortical laminar heterotopia 607432
PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: UKGTN
PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: Emory Genetics Laboratory
Model of inheritance for gene PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PAFAH1B1 was added to Malformations of cortical developmentpanel. Sources: Eligibility statement prior genetic testing,Other
PAFAH1B1 was created by ellenmcdonagh