Genomics England
GMS Panels
Panels
Genes and Entities

TNPO2

transportin 2
OMIM: 603002
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Dysmorphic features, Microcephaly, Seizures, Hypotonia
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Dysmorphic features, Microcephaly, Seizures, Hypotonia
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Dysmorphic features, Microcephaly, Seizures, Hypotonia