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| Undiagnosed metabolic disorders v1.360 | HSPA9 | Sarah Leigh Classified gene: HSPA9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.360 | HSPA9 | Sarah Leigh Gene: hspa9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.359 | HSPA9 | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants reported in Anemia, sideroblastic, 4 182170. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.359 | HSPA9 | Sarah Leigh Phenotypes for gene: HSPA9 were changed from Even-plus syndrome 616854 to Even-plus syndrome 616854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.358 | HSPA9 |
Sarah Leigh gene: HSPA9 was added gene: HSPA9 was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 26598328 Phenotypes for gene: HSPA9 were set to Even-plus syndrome 616854 Review for gene: HSPA9 was set to AMBER Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases. Sources: Literature |
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