1. Panels
  2. Fetal anomalies
  3. TMX2
Genes in panel
Prev Next

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 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 28 Jan 2021, 4:20 p.m. | Last Modified: 28 Jan 2021, 4:20 p.m.
Panel Version: 1.207
Created: 28 Jan 2021, 4:20 p.m.
Last Modified: 28 Jan 2021, 4:20 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Created: 28 Jan 2021, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Created: 28 Jan 2021, noon

Panel version: 1.185

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TMX2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TMX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TMX2 were set to

28 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

28 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

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

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Review for gene: TMX2 was set to GREEN