Activity
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6 actions
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| Barth syndrome v1.3 | TAZ | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #302060) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Barth syndrome v1.3 | TAZ | Achchuthan Shanmugasundram Phenotypes for gene: TAZ were changed from to Barth syndrome, OMIM:302060; Barth syndrome, MONDO:0010543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Barth syndrome v0.1 | TAZ | Eleanor Williams commented on gene: TAZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Barth syndrome v0.1 | TAZ | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TAZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Barth syndrome v0.1 | TAZ | Achchuthan Shanmugasundram reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Barth syndrome v0.1 | TAZ |
Achchuthan Shanmugasundram gene: TAZ was added gene: TAZ was added to Barth syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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