1. Panels
  2. Fetal anomalies
  3. MTX2
Genes in panel
Prev Next

Fetal anomalies

Gene: MTX2

Red List (low evidence)
MTX2 (metaxin 2)
EnsemblGeneIds (GRCh38): ENSG00000128654
EnsemblGeneIds (GRCh37): ENSG00000128654
OMIM: 608555, Gene2Phenotype
MTX2 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Geen in skel dys, lipodystrophy, hypertension & growth failure panels. progeroid phenotype; postnatal growth retardation. No IUGR reported. PMID:32917887 - skeletal features delayed closure of cranial sutrures, jont contractures/stiffness (no age provided), majority dysplatic femoral head. ? not sure.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia progeroid syndrome, OMIM:619127

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
OMIM
608555
Clinvar variants
Variants in MTX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MTX2 was added gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127