FECH

PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythropoietic Protoporphyria, Protoporphyria, erythropoietic, autosomal recessive, 177000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic, 1 177000
R-numbers: R168
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythropoietic Protoporphyria, Protoporphyria, erythropoietic, autosomal recessive, 177000
R-numbers: R326
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic, 1