Deafness and congenital structural abnormalities
Gene: POLR1AEnsemblGeneIds (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 dateCreated: 4 Oct 2016, 11:33 a.m.
Comment on list classification: Probable DD geneCreated: 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)
OMIM 616462: Acrofacial dysostosis, Cincinnati typeCreated: 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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for POLR1A were set to 25913037; 25434003
clearsources
Ellen McDonagh (Genomics England Curator)POLR1AAll sources for gene: POLR1A were removed
Added New Source
Sarah Leigh (Genomics England Curator)POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red
Added New Source
Sarah Leigh (Genomics England Curator)POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
Added New Source
Sarah Leigh (Genomics England Curator)POLR1A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review
Created
Sarah Leigh (Genomics England Curator)POLR1A was created by sleigh