Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral Palsy

Gene: TMX2

Green List (high evidence)

TMX2 (thioredoxin related transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000213593
EnsemblGeneIds (GRCh37): ENSG00000213593
OMIM: 616715, Gene2Phenotype
TMX2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730

Luisa Weiss (University of Adelaide)

Vandervore et al. published a larger study of several patients with neurological impariment and biallelic TMX2 mutations. 8 individuals out of 5 families had previously been diagnosed with CP. Most patients had severely impaired development and epilepsy.
Sources: Literature
Created: 1 Aug 2023, 12:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
OMIM
616715
Clinvar variants
Variants in TMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmx2 has been classified as Green List (High Evidence).

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmx2 has been classified as Green List (High Evidence).

1 Aug 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

gene: TMX2 was added gene: TMX2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31735293 Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730