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  2. Bilateral microtia
  3. POLR1A
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Bilateral microtia

Gene: POLR1A

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

1 review

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

Created: 1 Aug 2016, 11:38 a.m.

Panel version: 1.10

Details

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

History Filter Activity

5 Oct 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

13 May 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Apr 2016, Gel status: 0

Added New Source

Maria Bitner-Glindzicz (UCL)

POLR1A was added to Bilateral microtiapanel. Sources: Expert Review

3 Apr 2016, Gel status: 0

Created

Maria Bitner-Glindzicz (UCL)

POLR1A was created by mbitnerg