Genomics England
GMS Panels
Panels
Genes and Entities

TMX2

thioredoxin related transmembrane protein 2
OMIM: 616715
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary microcephaly, cortical malformation and epileptic encephalopathy
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887