Genomics England
GMS Panels
Panels
Genes and Entities

FECH

ferrochelatase
OMIM: 612386
PanelMode of inheritanceDetails
4 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
R-numbers: R237
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythropoietic Protoporphyria, Protoporphyria, erythropoietic, autosomal recessive, 177000
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic, 1, OMIM:177000, protoporphyria, erythropoietic, 1, MONDO:0008319
Green
in Non-acute porphyrias
R-numbers: R168
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythropoietic Protoporphyria, Protoporphyria, erythropoietic, autosomal recessive, 177000
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic, 1, OMIM:177000