Limb disordersGene: POLR1A
Weaver AJHG 96:765-74;2015
Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
Comment on list classification: 2 cases with a limb phenotype therefore rating amber. Rating agreed with Genomics England clinical team.
Created: 26 Nov 2019, 12:52 a.m. | Last Modified: 26 Nov 2019, 12:52 a.m.
Panel Version: 1.126
Associated with Acrofacial dysostosis, Cincinnati type (#616462) in OMIM and Gene2Phenotype (probable).
PMID: 25913037 - Weaver et al. 2015 - report 3 individuals with mandibulofacial dysostosis, 2 of which have limb anomalies. All have putative pathogenic variants in POLR1A. Limb anomalies include short stature with congenital short bowed femurs with metaphyseal flaring, dysplastic acetabulae, and delayed or absent ossification of the capital femoral epiphyses in Individual 1A1, and short, broad fingers and toes in individual 1A3. polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype.
Created: 7 Aug 2019, 10:59 a.m. | Last Modified: 7 Aug 2019, 10:59 a.m.
Panel Version: 1.44
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 1 Aug 2019, 4:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: polr1a has been classified as Amber List (Moderate Evidence).
Publications for gene: POLR1A were set to
Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, 616462
gene: POLR1A was added gene: POLR1A was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: POLR1A was set to AMBER