Genomics England
GMS Panels
Panels
Genes and Entities

POLR1C

RNA polymerase I subunit C
OMIM: 610060
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.102
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TREACHER COLLINS SYNDROME 3, TCS3
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TREACHER COLLINS SYNDROME TYPE 3 248390
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TREACHER COLLINS SYNDROME TYPE 3
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11, OMIM:616494
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Treacher Collins syndrome 3 248390
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11