Mandibulofacial Acrofacial dysostosis
Gene: POLR1A
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
Gene: polr1a has been classified as Green List (High Evidence).
Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, MIM# 616462
Publications for gene: POLR1A were set to 25913037
Publications for gene: POLR1A were set to
Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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