TMX2

thioredoxin related transmembrane protein 2
OMIM: 616715
PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887