Hereditary ataxia

Gene: POLR3A

Green List (high evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added missing publications
Created: 16 Jul 2018, 9:14 a.m.

Ellen McDonagh (Genomics England Curator)

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

History Filter Activity

16 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POLR3A were set to 25655951; 21855841

16 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POLR3A were set to 25655951; 21855841

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for POLR3A were set to Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR3A was added to Hereditary ataxiapanel. Sources: Expert list

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLR3A was created by ellenmcdonagh