TMX2

thioredoxin related transmembrane protein 2
OMIM: 616715, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TMX2 in Malformations of cortical development


Level 2: Neurology
Version 8.8
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
    Green TMX2 in Severe microcephaly


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.13 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
    Green TMX2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
    Green TMX2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Primary microcephaly, cortical malformation and epileptic encephalopathy
    Green TMX2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
    Green TMX2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887