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Erythropoietic protoporphyria, mild variant

Gene: FECH

Green List (high evidence)

FECH (ferrochelatase)
EnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Transcript and phenotypes under "gene summary" were accidently copied over to the review on Nov 12th 2015 and were not provided by the reviewer.
Created: 12 Nov 2015, 1:44 p.m.

John McGrath (King's College London)

Green List (high evidence)

FECH is most common gene _autosomal recessive. Most cases have one loss-of-function mutation and a common low expressing allele (IVS3-46T>C, which causes aberrant splicing and expression of ~25% wild-type. It is a common variant being found in ~10% of Western Europeans). Some cases have bi-allelic loss-of-function mutations. Mutations in ALAS2 may be under-recognised to date, but current data indicate that, taken together, mutations in FECH and ALAS2 account for ~94% of total EPP cases, i.e. further genetic heterogeneity is suspected in ~6% of cases.
Created: 12 Nov 2015, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000

Details

Mode of Inheritance
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
OMIM
612386
Clinvar variants
Variants in FECH
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 3

Upload gene information

Eik Haraldsdottir (Genomics England)

FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert list

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Illumina TruGenome Clinical Sequencing Services