Inherited white matter disorders

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: Can include malformations of cortical development AND white matter abnormalities.
Created: 6 Oct 2016, 9:52 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for SUBCORTICAL BAND HETEROTOPIA AND LISSENCEPHALY TYPE 1. More than 3 cases in OMIM for Lissencephaly 1 and found in 4/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if Lissencephaly 1 is considered a white matter disorder (it does include white matter abnormalities according to the OMIM clinical synopsis).
Created: 25 Aug 2016, 3:10 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly 1
  • Lissencephaly/Subcortical Band Heterotopia
OMIM
601545
Clinvar variants
Variants in PAFAH1B1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

25 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PAFAH1B1 were set to Cerebral Malformation Disorders; Lissencephaly 1; Lissencephaly/Subcortical Band Heterotopia

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory

5 Apr 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was created by ellenmcdonagh

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Inherited white matter disorderspanel. Sources: UKGTN