Inherited white matter disorders
Gene: POLR1A
POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:03 p.m.
Zornitza Stark (Australian Genomics)
Please note this recent report of siblings with a severe neurodegenerative phenotype including leukodystrophy and bi-allelic variants in this gene. Given that POLR1C, POLR3A and POLR3B are all associated with leukodystrophy, probably merits Amber for now.Created: 24 Jul 2018, 5:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 616404
- Clinvar variants
- Variants in POLR1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: polr1a has been classified as Red List (Low Evidence).
24 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)POLR1A was added to Inherited white matter disorders panel. Sources: Expert list
24 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)POLR1A was created by Zornitza Stark