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Iron metabolism disorders - NOT common HFE mutations v3.3 FECH Ida Ertmanska commented on gene: FECH: Comment on list classification: As the iron deficiency resulting from FECH mutations is mild (low to low-normal serum iron), this gene does not fit into the scope of this panel, and it should remain Amber.
Iron metabolism disorders - NOT common HFE mutations v3.1 FECH Ida Ertmanska changed review comment from: FECH product, ferrochelatase, is an enzyme in the heme biosynthesis pathway that catalyses insertion of an iron atom into protoporphyrin IX. According to Barman-Aksoezen et al., 2017 (PMID: 28185024) Erythropoietic protoporphyria (EPP) patients 'frequently exhibit low serum iron and a microcytic hypochromic anemia'. However, as reviewed by Sharon Whatley, the iron deficiency is often mild.

PMID: 21659066 Morais et al., 2011
Portuguese male proband with compound het mutations c.1052delA, p.Glu351Glyfs*6 and IVS3-48T>C in FECH - diagnosed with EPP, presented with acute episodes of photosensitivity, microcytic anemia and mild hepatic dysfunction.

PMID: 20412370 Wahlin et al., 2011
Swedish cohort of 51 EPP patients - 44% had low ferritin levels.

PMID: 28614581 Balwani et al., 2017
US report of 226 patients, 37.4% of EPP patients were anemic.; to: FECH product, ferrochelatase, is an enzyme in the heme biosynthesis pathway that catalyses insertion of an iron atom into protoporphyrin IX. According to Barman-Aksoezen et al., 2017 (PMID: 28185024) Erythropoietic protoporphyria (EPP) patients 'frequently exhibit low serum iron and a microcytic hypochromic anemia'. However, as reviewed by Sharon Whatley, the iron deficiency is often mild (low to low-normal serum iron).

PMID: 21659066 Morais et al., 2011
Portuguese male proband with compound het mutations c.1052delA, p.Glu351Glyfs*6 and IVS3-48T>C in FECH - diagnosed with EPP, presented with acute episodes of photosensitivity, microcytic anemia and mild hepatic dysfunction.

PMID: 20412370 Wahlin et al., 2011
Swedish cohort of 51 EPP patients - 44% had low ferritin levels.

PMID: 28614581 Balwani et al., 2017
US report of 226 patients, 37.4% of EPP patients were anemic.

FECH is associated with Protoporphyria, erythropoietic,1 OMIM:177000 (OMIM accessed 26th Nov 2025).
Iron metabolism disorders - NOT common HFE mutations v3.1 FECH Ida Ertmanska reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20412370, 21659066, 28185024, 28614581; Phenotypes: Protoporphyria, erythropoietic,1 OMIM:177000, protoporphyria, erythropoietic, 1 MONDO:0008319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v3.1 FECH Sharon Whatley reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: 28185024; Phenotypes: ; Mode of inheritance: None
Iron metabolism disorders - NOT common HFE mutations v1.25 FECH Sarah Leigh Phenotypes for gene: FECH were changed from EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 to Protoporphyria, erythropoietic, 1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Classified gene: FECH as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Gene: fech has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.39 FECH Louise Daugherty commented on gene: FECH: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Iron metabolism disorders - NOT common HFE mutations v0.37 FECH PATRICIA BIGNELL reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.25 FECH Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000.PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.24 FECH Steve Keeney reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.23 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.21 FECH Louise Daugherty Source North West GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.20 FECH Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.15 FECH Mandy nesbitt reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.14 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.12 FECH Louise Daugherty Source Yorkshire and North East GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.6 FECH Louise Daugherty reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 FECH Carl Fratter reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.4 FECH Louise Daugherty Source NHS GMS was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.3 FECH Louise Daugherty Source Expert Review Green was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Publications for gene FECH were changed from to 26387792; 20857522; 28614581
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.2 FECH Louise Daugherty gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FECH was set to