Erythropoietic protoporphyria, mild variant
Gene: FECHTranscript 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.
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
This gene has been classified as Green List (High Evidence).
FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Eligibility statement prior genetic testing
FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert list
FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Radboud University Medical Center, Nijmegen
FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: UKGTN
FECH was added to Erythropoietic protoporphyria, mild variantpanel. Sources: Illumina TruGenome Clinical Sequencing Services