Malformations of cortical development

Gene: PAFAH1B1

Green List (high evidence)

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

2 reviews

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.

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.

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 607432
  • Subcortical laminar heterotopia 607432
OMIM
601545
Clinvar variants
Variants in PAFAH1B1
Penetrance
Complete
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Nov 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PAFAH1B1 were set to Lissencephaly 1 607432; Subcortical laminar heterotopia 607432

11 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: UKGTN

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PAFAH1B1 was added to Malformations of cortical developmentpanel. Source: Emory Genetics Laboratory

11 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Malformations of cortical developmentpanel. Sources: Eligibility statement prior genetic testing,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was created by ellenmcdonagh