Inherited white matter disorders
Gene: POLR3AComment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, multiple families and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 10:11 a.m.
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).
Phenotypes for POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for POLR3A were set to 25655951; 21855841
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694
POLR3A was added to Inherited white matter disorderspanel. Sources: Expert list
Publications for POLR3A were set to 25655951; 21855841
This gene has been classified as Green List (High Evidence).
Publications for POLR3A were set to 25655951
POLR3A was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
POLR3A was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
POLR3A was created by ellenmcdonagh