Non-acute porphyrias
Gene: FECH
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: FECH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 3:53 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:58 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythropoietic protoporphyria, mild variant
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.
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
Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Gene: fech has been classified as Green List (High Evidence).
Source Other was added to FECH. Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Source Expert Review Green was added to FECH. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: FECH was added gene: FECH was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: FECH was set to