PanelApp (staging)
  1. Genes and Genomic Entities
  2. TMX2

TMX2

thioredoxin related transmembrane protein 2
OMIM: 616715, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber TMX2 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730

    Green TMX2 in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.195

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730

    Green TMX2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730

    Green TMX2 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly
    • ID
    • brain malformations

    Green TMX2 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.295

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly
    • ID
    • brain malformations

    Green TMX2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microcephaly
    • ID
    • brain malformations
    • seizures

    Green TMX2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly
    • ID
    • brain malformations

    Green TMX2 in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
    • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730