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| Cutaneous photosensitivity with a likely genetic cause v3.4 | ALAS2 | Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked, OMIM:300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.11 | ALAS2 | Catherine Snow Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.11 | ALAS2 |
Catherine Snow Source Expert Review Green was added to ALAS2. Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cutaneous photosensitivity with a likely genetic cause v0.10 | ALAS2 | Catherine Snow commented on gene: ALAS2: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.10 | ALAS2 | Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.9 | ALAS2 | Catherine Snow Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.9 | ALAS2 |
Catherine Snow gene: ALAS2 was added gene: ALAS2 was added to Cutaneous photosensitivity with a likely genetic cause. 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 Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 |
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