Malformations of cortical development
Gene: PAFAH1B1

PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000007168
EnsemblGeneIds (GRCh37): ENSG00000007168
OMIM: 601545, Gene2Phenotype
PAFAH1B1 is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Functional 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

34635911

Created: 13 Dec 2022, 8:58 p.m.
Last Modified: 13 Dec 2022, 8:58 p.m.
Panel version: 3.1

Sarah Leigh (Genomics England Curator)

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.

Created: 1 Nov 2016, 12:19 p.m.

Panel version: 0.6

Ellen McDonagh (Genomics England Curator)

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.

Created: 8 Jan 2016, 10:18 a.m.

Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Other
Illumina TruGenome Clinical Sequencing Services
UKGTN
Emory Genetics Laboratory
Eligibility statement prior genetic testing

Phenotypes

Lissencephaly 1, OMIM:607432
Subcortical laminar heterotopia, OMIM:607432

OMIM

601545

Clinvar variants

Variants in PAFAH1B1

Penetrance

Complete

Publications

34635911

Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PAFAH1B1 were changed from Lissencephaly 1 607432; Subcortical laminar heterotopia 607432 to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432

13 Dec 2022, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PAFAH1B1 were set to

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4