PanelApp
  1. Genes and Genomic Entities
  2. FECH

FECH

ferrochelatase
OMIM: 612386, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red FECH in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Protoporphyria, erythropoietic, 1, MIM# 177000

    Green FECH in Mendeliome


    Version 1.3499

    		2 reviews 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 1.10

    		1 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 0.19

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  1 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 0.49

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • EPP1
    • 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1

    Green FECH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Protoporphyria, erythropoietic, 1, MIM# 177000
    Tags
    • treatable
    • haematological