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  3. POLR1A
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Craniosynostosis

Gene: POLR1A

Amber List (moderate evidence)
POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 37075751 - craniosynostosis shown in 3/21 patients
Sources: Literature
Created: 4 May 2023, 2:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Acrofacial dysostosis, Cincinnati type MIM#616462

Publications

Created: 4 May 2023, 2:23 a.m.

Panel version: 1.54

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Acrofacial dysostosis, Cincinnati type MIM#616462
OMIM
616404
Clinvar variants
Variants in POLR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: polr1a has been classified as Amber List (Moderate Evidence).

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: polr1a has been classified as Amber List (Moderate Evidence).

4 May 2023, Gel status: 1

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 Craniosynostosis. 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 AMBER