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GENE - TERM ANNOTATION REPORT

RGD ID: 1359456
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmx2
Name: thioredoxin-related transmembrane protein 2
Acc ID: DOID:9006716
Term: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Definition: An autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging.
Definition Source(s): OMIM:618730
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tmx2 ISOTMX2 (Homo sapiens)7240710OMIM  
Tmx2 ISOTMX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticityPMID:25741868 PMID:31586943 PMID:31735293
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