Clefting
Gene: POLR1A
PMID: 25913037 : Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies identified POLR1A in three unrelated individuals. One individual had a cleft palate, the other individuals had craniofacial features but not specifically a cleft palate.
POLR1A is associated with cleft palate in OMIM based on this paper and is in Gene2Phenotype as a DD Gene, associated with Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE.
As insufficient number of cases, classifying as Amber.Created: 27 Aug 2019, 10:02 a.m. | Last Modified: 27 Aug 2019, 10:02 a.m.
Panel Version: 1.50
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert listCreated: 27 Aug 2019, 9:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cleft lip
Publications
Phenotypes for gene: POLR1A were changed from cleft lip to cleft palte
Gene: polr1a has been classified as Amber List (Moderate Evidence).
gene: POLR1A was added gene: POLR1A was added to Clefting. Sources: Expert list 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 lip Review for gene: POLR1A was set to AMBER