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| Mitochondrial DNA maintenance disorder v2.3 | TFAM |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM. Tag Q3_22_NHS_review was removed from gene: TFAM. |
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| Mitochondrial DNA maintenance disorder v2.3 | TFAM | Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v2.2 | TFAM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial DNA maintenance disorder v1.21 | TFAM | Arina Puzriakova Publications for gene: TFAM were set to 27448789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.20 | TFAM | Arina Puzriakova Phenotypes for gene: TFAM were changed from ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.15 | TFAM | Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785789, 32399598, 27448789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.12 | TFAM |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TFAM. Tag Q3_22_NHS_review tag was added to gene: TFAM. |
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| Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Classified gene: TFAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Added comment: Comment on list classification: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.3 | TFAM | Ivone Leong reviewed gene: TFAM: Rating: RED; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.2 | TFAM |
Ivone Leong gene: TFAM was added gene: TFAM was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 |
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