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| Mendeliome v2.78 | SLC16A13 | Zornitza Stark Marked gene: SLC16A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.78 | SLC16A13 | Zornitza Stark Gene: slc16a13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.66 | SLC16A13 |
Lucy Spencer gene: SLC16A13 was added gene: SLC16A13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC16A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC16A13 were set to 42173862 Phenotypes for gene: SLC16A13 were set to Lactic acidosis MONDO:0006040, SLC16A13-related Review for gene: SLC16A13 was set to RED Added comment: PMID: 42173862 reports a 10yo with a homozygous frameshift variant in SLC16A13 who had growth delay, partial growth hormone deficiency and profound exercise induced lactic acidemia. Other metabolic abnormalities were also detected post exercise. A knockout mouse model recapitulated the exercise induced lactic acidemia, however the mice had normal growth and development. Sources: Literature |
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