TREM2

triggering receptor expressed on myeloid cells 2
OMIM: 605086
PanelMode of inheritanceDetails
4 panels
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193, Dystonia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease 221770
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY, Calcifications in basal ganglia, Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)