Genomics England
GMS Panels
Panels
Genes and Entities

POLR1A

RNA polymerase I subunit A
OMIM: 616404
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrofacial dysostosis, Cincinnati type, OMIM:616462, Acrofacial dysostosis Cincinnati type, MONDO:0014651
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrofacial dysostosis, Cincinnati type 616462