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  3. POLR1A
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Mandibulofacial Acrofacial dysostosis

Gene: POLR1A

Green List (high evidence)
POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 25913037 reports 3 affected individuals with variants in this gene - 2 missense (1x de novo and the other unknown) and 1 NMD-predicted (inherited from mildly affected father). Variable severity of craniofacial phenotype. Zebrafish models of homozygous loss of POLR1A recapitulates the craniofacial phenotype.
Created: 26 Dec 2020, 11:41 p.m. | Last Modified: 26 Dec 2020, 11:41 p.m.
Panel Version: 0.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis, Cincinnati type, MIM# 616462

Publications

Created: 26 Dec 2020, 11:41 p.m.
Last Modified: 26 Dec 2020, 11:41 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrofacial dysostosis, Cincinnati type, MIM# 616462
OMIM
616404
Clinvar variants
Variants in POLR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1a has been classified as Green List (High Evidence).

26 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, MIM# 616462

26 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1A were set to 25913037

26 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1A were set to

26 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR1A was added gene: POLR1A was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLR1A was set to Unknown