Erythropoietic protoporphyria, mild variant
Gene: FECHEnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 9 panels
3 reviews
Sharon Whatley (International Porphyria Network)
Rating – Green if the panel title is modified
There is no published evidence that a mild form of erythropoietic protoporphyria (EPP) is not part of the spectrum EPP phenotypes. This panel could probably be changed to "Erythropoietic Protoporphyria" and include FECH, ALAS2 and possibly CLPX which has been found to act together with ALAS2 in one patient.Created: 28 Aug 2025, 3:37 p.m. | Last Modified: 28 Aug 2025, 3:37 p.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
177000
Publications
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)
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
-
- Cutaneous photosensitivity with a likely genetic cause
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Vascular skin disorders
- Non-acute porphyrias
- Iron metabolism disorders - NOT common HFE mutations
- Erythropoietic protoporphyria, mild variant
- Undiagnosed metabolic disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Eligibility statement prior genetic testing
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
Added New Source
GEL ()FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: UKGTN
Added New Source
GEL ()FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Illumina TruGenome Clinical Sequencing Services