Clefting disorders
Gene: POLR1AEnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 11 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 37075751 - reports an additional 5 patients with clefting from a cohort of ~17 patientsCreated: 4 May 2023, 2:24 a.m. | Last Modified: 4 May 2023, 2:24 a.m.
Panel Version: 0.194
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrofacial dysostosis, Cincinnati type MIM#616462
Publications
- PMID: 37075751
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Acrofacial dysostosis, Cincinnati type MIM#616462
- OMIM
- 616404
- Clinvar variants
- Variants in POLR1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: polr1a has been classified as Green List (High Evidence).
Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Phenotypes for gene: POLR1A were changed from cleft palte to Acrofacial dysostosis, Cincinnati type MIM#616462
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: polr1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLR1A was added gene: POLR1A was added to Clefting_GEL. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to cleft palte