TXN, thioredoxin, 7295

N. diseases: 338; N. variants: 2
Disease: Congenital microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.010 GeneticVariation disease BEFREE We describe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-related transmembrane-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unrelated families presenting with congenital microcephaly, cortical polymicrogyria, and other migration disorders. 31735293 2019