FECH

ferrochelatase
OMIM: 612386, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FECH in Erythropoietic protoporphyria, mild variant Level 3: Sun-exposure related conditions Level 2: Dermatological disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Erythropoietic Protoporphyria Protoporphyria, erythropoietic, autosomal recessive, 177000
Green FECH in Non-acute porphyrias Version 1.24 Latest signed off version: v1.4 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Protoporphyria, erythropoietic,1 OMIM:177000 protoporphyria, erythropoietic, 1 MONDO:0008319
Green FECH in Cutaneous photosensitivity with a likely genetic cause Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Erythropoietic Protoporphyria Protoporphyria, erythropoietic, autosomal recessive, 177000
Green FECH in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Protoporphyria, erythropoietic, 1, OMIM:177000
Amber FECH in Iron metabolism disorders - NOT common HFE mutations Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes Protoporphyria, erythropoietic, 1 OMIM:177000 protoporphyria, erythropoietic, 1 MONDO:0008319
Green FECH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Protoporphyria, erythropoietic, 1 177000
Green FECH in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Protoporphyria, erythropoietic, 1 177000
Red FECH in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green FECH in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Protoporphyria, erythropoietic, 1, 177000