Inherited white matter disorders
Gene: PAFAH1B1EnsemblGeneIds (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
-
- Lissencephaly 1, OMIM:607432
- Subcortical laminar heterotopia, OMIM:607432
- OMIM
- 601545
- Clinvar variants
- Variants in PAFAH1B1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PAFAH1B1 were changed from Cerebral Malformation Disorders; Lissencephaly 1; Lissencephaly/Subcortical Band Heterotopia to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PAFAH1B1 were set to Cerebral Malformation Disorders; Lissencephaly 1; Lissencephaly/Subcortical Band Heterotopia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
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
Added New Source
Ellen McDonagh (Genomics England Curator)PAFAH1B1 was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)PAFAH1B1 was created by ellenmcdonagh