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  3. TMX2
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Fetal anomalies

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

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had polymicrogyria.

PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature
Created: 24 Aug 2020, 2:50 a.m. | Last Modified: 24 Aug 2020, 2:51 a.m.
Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Aug 2020, 2:50 a.m.
Last Modified: 24 Aug 2020, 2:51 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.92

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Literature
Created: 8 Dec 2019, 7:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly; ID; brain malformations

Publications

Created: 8 Dec 2019, 7:55 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.931

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
OMIM
616715
Clinvar variants
Variants in TMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2022, 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).

18 Jan 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31586943; 31735293; 31270415 Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730