Hereditary ataxia
Gene: POLR3AComment on publications: added missing publicationsCreated: 16 Jul 2018, 9:14 a.m.
Comment on list classification: This gene is on the Autosomal Recessive Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. 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. Discussed internally and promoted to green.Created: 23 Aug 2016, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal Recessive Ataxia
Publications for gene: POLR3A were set to 25655951; 21855841
Publications for gene: POLR3A were set to 25655951; 21855841
This gene has been classified as Green List (High Evidence).
Phenotypes for POLR3A were set to Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
POLR3A was added to Hereditary ataxiapanel. Sources: Expert list
POLR3A was created by ellenmcdonagh