Genomics England
GMS Panels
Panels
Genes and Entities

POLR2A

RNA polymerase II subunit A
OMIM: 180660
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SYNDROMIC INTELLECTUAL DISABILITY 612100
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603, Global developmental delay, Generalized hypotonia, Feeding difficulties