FECH

ferrochelatase
OMIM: 612386, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red FECH in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Protoporphyria, erythropoietic, 1, MIM# 177000
Green FECH in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Protoporphyria, erythropoietic, 1 177000 AR Tags SV/CNV deep intronic
Green FECH in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Protoporphyria, erythropoietic, 1 177000
Green FECH in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.17 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Protoporphyria, erythropoietic, autosomal recessive, 177000 Tags SV/CNV deep intronic
Amber FECH in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Amber Genomics England PanelApp Phenotypes EPP1 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Green FECH in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Protoporphyria, erythropoietic, 1, MIM# 177000 Tags treatable haematological