Inherited white matter disorders
Gene: PAFAH1B1Comment on list classification: Can include malformations of cortical development AND white matter abnormalities.Created: 6 Oct 2016, 9:52 a.m.
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.
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
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PAFAH1B1 were set to Cerebral Malformation Disorders; Lissencephaly 1; Lissencephaly/Subcortical Band Heterotopia
This gene has been classified as Amber List (Moderate Evidence).
PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
PAFAH1B1 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory
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
PAFAH1B1 was added to Inherited white matter disorderspanel. Sources: UKGTN
PAFAH1B1 was created by ellenmcdonagh