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| Mitochondrial liver disease, including transient infantile liver failure v1.5 | 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 liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Classified gene: TFAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Added comment: 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 liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure 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 liver disease, including transient infantile liver failure v0.2 | TFAM |
Ivone Leong gene: TFAM was added gene: TFAM was added to Mitochondrial liver disease. 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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