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Gene: POLR3A

Green List (high evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 18 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

POLR3A-Related Disorders (MONDO:0700276). Clinical characteristics include a variable age of onset with a spectrum of global developmental delay, failure to thrive, hypomyelinating leukodystrophy, neurological dysfunction, dental abnormalities, and hypogonadotropic hypogonadism.

HGNC approved symbol/name: POLR3A
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 5:35 a.m. | Last Modified: 3 Mar 2025, 5:35 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090

Publications

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR3A was added gene: POLR3A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)