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Skeletal dysplasia

Gene: MTX2

Amber List (moderate evidence)

MTX2 (metaxin 2)
EnsemblGeneIds (GRCh38): ENSG00000128654
EnsemblGeneIds (GRCh37): ENSG00000128654
OMIM: 608555, Gene2Phenotype
MTX2 is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

The Genomics England Clinical Team suggested that this gene should be added to this panel as there are enough skeletal features for it to be here. Therefore, this gene has been given an Amber rating and will be promoted to Green at the next review.

Review from Zornitza Stark on the Lipodystrophy - childhood onset:
"Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Sources: Literature
Zornitza Stark (Australian Genomics), 5 Oct 2020"
Sources: Literature
Created: 13 Nov 2020, 1:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Skeletal dysplasia
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
Tags
for-review
OMIM
608555
Clinvar variants
Variants in MTX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mtx2 has been classified as Amber List (Moderate Evidence).

13 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: MTX2 was added gene: MTX2 was added to Skeletal dysplasia. Sources: Literature for-review tags were added to gene: MTX2. 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 Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification Review for gene: MTX2 was set to GREEN