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  3. POLR1A
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Clefting

Gene: POLR1A

Amber List (moderate evidence)
POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 8 panels

1 review

Catherine Snow (Genomics England)

I don't know

PMID: 25913037 : Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies identified POLR1A in three unrelated individuals. One individual had a cleft palate, the other individuals had craniofacial features but not specifically a cleft palate.
POLR1A is associated with cleft palate in OMIM based on this paper and is in Gene2Phenotype as a DD Gene, associated with Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE.
As insufficient number of cases, classifying as Amber.
Created: 27 Aug 2019, 10:02 a.m. | Last Modified: 27 Aug 2019, 10:02 a.m.
Panel Version: 1.50
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 27 Aug 2019, 9:32 a.m.

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

Phenotypes
cleft lip

Publications

Created: 27 Aug 2019, 9:32 a.m.

Panel version: 1.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • cleft palte
OMIM
616404
Clinvar variants
Variants in POLR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: POLR1A were changed from cleft lip to cleft palte

27 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

27 Aug 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: POLR1A was added gene: POLR1A was added to Clefting. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to cleft lip Review for gene: POLR1A was set to AMBER