Genomics England
GMS Panels
Panels
Genes and Entities

PERP

PERP, TP53 apoptosis effector
OMIM: 609301
PanelMode of inheritanceDetails
2 panels
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.27
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269