TMX2

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber TMX2 in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Green TMX2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Green TMX2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Green TMX2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly ID brain malformations seizures
Green TMX2 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Genomics England PanelApp Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730