Congenital Heart Defect
Gene: POLR1AEnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 11 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 37075751 - 8/21 patients had congenital heart disease (mostly septal defect, one patient had bicuspid aortic valve, aortic aneurysm). Het mouse model had heart defects including truncus arteriosus
Sources: LiteratureCreated: 4 May 2023, 2:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrofacial dysostosis, Cincinnati type MIM#616462
Publications
- PMID: 37075751
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Acrofacial dysostosis, Cincinnati type MIM#616462
- OMIM
- 616404
- Clinvar variants
- Variants in POLR1A
- Penetrance
- None
- Publications
-
- PMID: 37075751
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: polr1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: polr1a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: POLR1A was added gene: POLR1A was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to PMID: 37075751 Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462 Review for gene: POLR1A was set to GREEN