Hereditary spastic paraplegia

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Spasticity is a reported feature in HSP
Created: 16 Jul 2018, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Publications

History Filter Activity

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: polr3a has been classified as Green List (High Evidence).

16 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

POLR3A was added to Hereditary spastic paraplegia panel. Sources: Literature

16 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

POLR3A was created by Louise Daugherty