Activity
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7 actions
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| Possible mitochondrial disorder - nuclear genes v4.17 | TOMM7 | Ida Ertmanska reviewed gene: TOMM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | TOMM7 |
Ida Ertmanska Tag Q3_24_promote_green was removed from gene: TOMM7. Tag Q3_24_NHS_review was removed from gene: TOMM7. |
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| Possible mitochondrial disorder - nuclear genes v4.16 | TOMM7 |
Ida Ertmanska Source Expert Review Green was added to TOMM7. Source NHS GMS was added to TOMM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder - nuclear genes v3.110 | TOMM7 | Eleanor Williams commented on gene: TOMM7: This gene was initially added to the Skeletal dysplasia panel. TOMM7 is a nuclear gene that encodes a subunit of the translocase of the outer mitochondrial membrane. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.110 | TOMM7 | Eleanor Williams Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.109 | TOMM7 | Eleanor Williams Entity copied from Skeletal dysplasia v7.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.109 | TOMM7 |
Eleanor Williams gene: TOMM7 was added gene: TOMM7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TOMM7. Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to PMID: 36282599; PMID: 36299998 Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601; Garg-Mishra progeroid syndrome, MONDO:0957953 |
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