Activity
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| Vascular skin disorders v1.56 | ALAS2 | Arina Puzriakova Classified gene: ALAS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| Vascular skin disorders v1.56 | ALAS2 | Arina Puzriakova Gene: alas2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.10 | ALAS2 | Ivone Leong Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.9 | ALAS2 | Ivone Leong Publications for gene: ALAS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.3 | ALAS2 | Zornitza Stark reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.24 | ALAS2 | Tom Cullup reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18760763; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.21 | ALAS2 |
Catherine Snow Source Expert Review Green was added to ALAS2. Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Vascular skin disorders v0.20 | ALAS2 | Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.19 | ALAS2 |
Catherine Snow gene: ALAS2 was added gene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752 |
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