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Vascular skin disorders v2.4 FECH Arina Puzriakova Publications for gene: FECH were set to 7857832; 9649563
Vascular skin disorders v2.3 FECH Ida Ertmanska reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10954661, 9649563; Phenotypes: Protoporphyria, erythropoietic,1 OMIM:177000, protoporphyria, erythropoietic, 1 MONDO:0008319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v2.3 FECH Ida Ertmanska Publications for gene: FECH were set to 9649563
Vascular skin disorders v2.2 FECH Ida Ertmanska Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1, OMIM:177000 to Protoporphyria, erythropoietic, 1, OMIM:177000; protoporphyria, erythropoietic, 1, MONDO:0008319
Vascular skin disorders v2.1 FECH Sharon Whatley reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: 7857832; Phenotypes: ; Mode of inheritance: None
Vascular skin disorders v1.56 ALAS2 Arina Puzriakova Added comment: Comment on list classification: Inclusion of ALAS2 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics).

Gain-of-function variants in the ALAS2 gene cause erythropoietic protoporphyria which is associated with acute phototoxic skin reactions following sunlight exposure. Although the origin of cutaneous manifestations is not directly vascular, this panel may provide a differential diagnosis. The FECH gene which also causes erythropoietic protoporphyria is also included on the panel.

Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.
Vascular skin disorders v1.21 FECH Ivone Leong Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
Vascular skin disorders v0.31 FECH Catherine Snow Publications for gene: FECH were set to
Vascular skin disorders v0.30 FECH Catherine Snow Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1
Vascular skin disorders v0.24 FECH Tom Cullup reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9649563; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.17 FECH Catherine Snow Classified gene: FECH as Green List (high evidence)
Vascular skin disorders v0.17 FECH Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.
Vascular skin disorders v0.17 FECH Catherine Snow Gene: fech has been classified as Green List (High Evidence).
Vascular skin disorders v0.13 FECH Catherine Snow reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.12 FECH Catherine Snow 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