Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPR

heterogeneous nuclear ribonucleoprotein R
OMIM: 607201
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Postnatal microcephaly, Short digit, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Postnatal microcephaly, Short digit, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073