Date Panel Item Activity
8 actions
Limb disorders v1.126 POLR1A Eleanor Williams Classified gene: POLR1A as Amber List (moderate evidence)
Limb disorders v1.126 POLR1A Eleanor Williams Added comment: Comment on list classification: 2 cases with a limb phenotype therefore rating amber. Rating agreed with Genomics England clinical team.
Limb disorders v1.126 POLR1A Eleanor Williams Gene: polr1a has been classified as Amber List (Moderate Evidence).
Limb disorders v1.125 POLR1A Eleanor Williams Publications for gene: POLR1A were set to
Limb disorders v1.124 POLR1A Eleanor Williams Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, 616462
Limb disorders v1.44 POLR1A Eleanor Williams commented on gene: POLR1A: 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.
Limb disorders v1.24 POLR1A Andrew Wilkie reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.20 POLR1A Eleanor Williams 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
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list