Genomics England
GMS Panels
Panels
Genes and Entities

TGM5

transglutaminase 5
OMIM: 603805
PanelMode of inheritanceDetails
3 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 2, OMIM:609796, Acral peeling skin sydrome,MONDO:0012345
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 2, OMIM:609796
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 2, OMIM:609796