Genomics England
GMS Panels
Panels
Genes and Entities

MTX2

metaxin 2
OMIM: 608555
PanelMode of inheritanceDetails
3 panels
Green
in Lipodystrophy - childhood onset
R-numbers: R158
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal dysplasia, Mandibuloacral dysplasia, lipodystrophy, arterial calcification, Mandibuloacral dysplasia progeroid syndrome, OMIM:619127