Metal Metabolism Disorders

Gene: FECH

Amber List (moderate evidence)

FECH (ferrochelatase)
EnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • EPP1
  • 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
OMIM
612386
Clinvar variants
Variants in FECH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FECH was added gene: FECH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FECH were set to 20857522; 26387792; 28614581 Phenotypes for gene: FECH were set to EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1