Deafness and congenital structural abnormalities
Gene: POLR1AComment 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.
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.
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
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
Publications for POLR1A were set to 25913037; 25434003
POLR1AAll sources for gene: POLR1A were removed
POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red
POLR1A was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
POLR1A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review
POLR1A was created by sleigh