Genomics England
GMS Panels
Panels
Genes and Entities

POLR1B

RNA polymerase I subunit B
OMIM: 602000
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Treacher-Collins syndrome 4 OMIM:618939, treacher collins syndrome 4 MONDO:0030067
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher-Collins syndrome 4 OMIM:618939
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher-Collins syndrome 4 OMIM:618939, treacher collins syndrome 4 MONDO:0030067