Genes in panel

Hereditary ataxia - adult onset

Gene: POLR3A

Green List (high evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 20 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple reports and variants in the literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 for gene: POLR3A

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POLR3A.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to POLR3A.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: POLR3A was added gene: POLR3A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 25655951 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia