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| Non-acute porphyrias v1.24 | ALAS2 | Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721 to Protoporphyria, erythropoietic, X-linked, OMIM:300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v1.9 | ALAS2 | Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | ALAS2 | Ivone Leong Marked gene: ALAS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | ALAS2 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | ALAS2 | Ivone Leong Gene: alas2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.7 | ALAS2 |
Ivone Leong Source Other was added to ALAS2. Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene ALAS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2 Publications for gene ALAS2 were changed from to 18760763; 23263862 |
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| Non-acute porphyrias v0.4 | ALAS2 |
Ivone Leong Source Expert Review Green was added to ALAS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Non-acute porphyrias v0.3 | ALAS2 | Ivone Leong reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.2 | ALAS2 |
Ivone Leong gene: ALAS2 was added gene: ALAS2 was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: ALAS2 was set to |
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