Deafness and congenital structural abnormalities

Gene: POLR1A

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Only two variants reported associated with this phenotype to date
Created: 4 Oct 2016, 11:33 a.m.
Comment on list classification: Probable DD gene
Created: 19 Sep 2016, 10:22 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to original comments from Maria Bitner regarding the number of affected individuals, and review by Ana Beleza.
Created: 14 Oct 2016, 12:14 p.m.
Comment on list classification: This gene was added to the bilateral microtia panel by Maria Bitner-Glindzicz (UCL).
Created: 12 Sep 2016, 2:59 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

OMIM 616462: Acrofacial dysostosis, Cincinnati type
Created: 1 Aug 2016, 11:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microtia/ anotia; acrofacial dysostosis; micrognathia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown
  • Acrofacial dysostosis, Cincinnati type, 616462
  • Microtia/ anotia
  • acrofacial dysostosis
  • micrognathia
OMIM
616404
Clinvar variants
Variants in POLR1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for POLR1A were set to 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown; Acrofacial dysostosis, Cincinnati type, 616462;Microtia/ anotia; acrofacial dysostosis; micrognathia

14 Oct 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for POLR1A were set to 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, inherited from an unaffected parent and 1 with parental status unknown; Acrofacial dysostosis, Cincinnati type, 616462

14 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLR1A were set to 25913037; 25434003

14 Oct 2016, Gel status: 2

clearsources

Ellen McDonagh (Genomics England Curator)

POLR1AAll sources for gene: POLR1A were removed

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber

5 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POLR1A was created by sleigh