Vascular skin disorders
Gene: FECHEnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 9 panels
4 reviews
Ida Ertmanska (Genomics England Curator)
PMID: 10954661 Timonen et al., 2000
8 patients with EPP from 7 Finnish families. Skin biopsy findings revealed vascular involvement in the patients: thickening of the superficial dermal vessel walls, as well as amorphous deposits around the vessels. Accumulation of protoporphyrins leads to an acute photoreaction and blood vessel damage.
FECH is associated with Protoporphyria, erythropoietic,1 OMIM:177000 (OMIM accessed 28th Nov 2025).
As the phenotype includes vascular damage visible in the dermis, this gene should remain Green on the Vascular skin disorders panel.Created: 28 Nov 2025, 3:12 p.m. | Last Modified: 28 Nov 2025, 3:12 p.m.
Panel Version: 2.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Publications
Sharon Whatley (International Porphyria Network)
Erythropoietic protoporphyria (EPP) is not primarily a vascular skin disorder. It is a disorder of the haem biosynthetic pathway and is characterized by the accumulation of metal-free protoporphyrin in erythrocytes, plasma, and the biliary system. Protoporphyrin released from erythroid cells into the vascular endothelium and surrounding tissues is activated by visible light, triggering oxidative stress and inflammation.Created: 28 Aug 2025, 3:54 p.m. | Last Modified: 28 Aug 2025, 3:54 p.m.
Panel Version: 2.1
Publications
Catherine Snow (Genomics England)
Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.Created: 2 Dec 2019, 11:46 a.m. | Last Modified: 2 Dec 2019, 11:46 a.m.
Panel Version: 0.17
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:FECH; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Protoporphyria, erythropoietic, 1, OMIM:177000
- protoporphyria, erythropoietic, 1, MONDO:0008319
- OMIM
- 612386
- Clinvar variants
- Variants in FECH
- Penetrance
- None
- Publications
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FECH were set to 7857832; 9649563
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: FECH were set to 9649563
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1, OMIM:177000 to Protoporphyria, erythropoietic, 1, OMIM:177000; protoporphyria, erythropoietic, 1, MONDO:0008319
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
Set publications
Catherine Snow (Genomics England)Publications for gene: FECH were set to
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: fech has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FECH was added gene: FECH was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal