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Genetic epilepsy syndromes

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Associated with AD lissencephaly 1 and subcortical laminar heterotopia. Is associated with epilepsy - Saillour et al, 2009 = 40/63 patients with posterior predominant lissencephaly had a LIS1 mutation or deletion - 82.9% had early onset seizures and 48.7% had seizures more often than daily. Cardoso et al, 2002 65/98 patients with isolated lissencephaly or MLDS had large deletions of the LIS1 gene. Among 41 intragenic LIS1 mutations, 36(88%)resulted in a truncated or internally deleted protein, 5/41 missense. Saillour et al, 2009 - 40/63 patients with gene defects - 8 small dels and 31 het LIS1 mutations including 12 nonsense, 8 fs, 6 missense and 5 splicing. All confirmed de novo.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly, 607432; Subcortical laminar heterotopia, 607432

Publications

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient cases with PAFAH1B1 variants in Lissencephaly 1 and reports of seizures.
Created: 14 Nov 2018, 5:03 p.m.
Comment on list classification: Numerous cases of variants in the PAFAH1B1 gene in patients with Lissencephaly 1 and reporting seizures.
Created: 14 Nov 2018, 4:59 p.m.
PAFAH1B1 is associated with Lissencephaly 1 in OMIM and Gene2Phenotype (confirmed).

Numerous SNVs and large deletions in patients with Lissencephaly have been reported. Many cases with seizures reported (see PMID: 19667223 for example).
Created: 14 Nov 2018, 4:58 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this brain development disorder.
Created: 18 Aug 2018, 8:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 1, MIM#607432

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 1 607432
OMIM
601545
Clinvar variants
Variants in PAFAH1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PAFAH1B1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PAFAH1B1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pafah1b1 has been classified as Green List (High Evidence).

14 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1 607432

14 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PAFAH1B1 were set to

14 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pafah1b1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PAFAH1B1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PAFAH1B1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PAFAH1B1 was created by Sarah Leigh