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Severe microcephaly

Gene: TMX2

Amber List (moderate evidence)

TMX2 (thioredoxin related transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000213593
EnsemblGeneIds (GRCh37): ENSG00000213593
OMIM: 616715, Gene2Phenotype
TMX2 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 2:03 p.m. | Last Modified: 20 Oct 2020, 2:03 p.m.
Panel Version: 2.32

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Primary microcephaly, cortical malformation and epileptic encephalopathy. At least 7 variants reported in at least 9 unrelated cases of Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 (PMID 31735293; 31270415).
Created: 22 Jun 2020, 2:19 p.m. | Last Modified: 22 Jun 2020, 2:19 p.m.
Panel Version: 2.8
Sources: Literature
Created: 22 Jun 2020, 2:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730
Tags
for-review
OMIM
616715
Clinvar variants
Variants in TMX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tmx2 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TMX2.

22 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Jun 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TMX2 was added gene: TMX2 was added to Severe microcephaly. Sources: Literature 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 618730 Review for gene: TMX2 was set to GREEN