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| Mendeliome v1.3559 | TXNIP |
Lucy Spencer gene: TXNIP was added gene: TXNIP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TXNIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNIP were set to 41116060; 30755400 Phenotypes for gene: TXNIP were set to Metabolic disease MONDO:0005066, TXNIP-related Review for gene: TXNIP was set to AMBER Added comment: TXNIP binds and inhibits TXN, controlling its activity. The TXN system is a major cellular system for control of redox state, antioxidant defense, and several signaling pathways. TXNIP can also activate the NLRP3 inflammasome and suppress of the activities of the nuclear factor (erythroid-derived 2)–like 2 (Nrf2) transcription factor. PMID 30755400 reports three affected siblings from a consanguineous Libyan family with autosomal recessive congenital lactic acidosis and low serum methionine. 2 of the three siblings have developed normally and appear to be mostly asymptomatic apart from variable hypoglycaemia, while the third had failure the thrive as an infant, slow development, ?autism, and slight muscular hypotonus. All three siblings were homozygous for TXNIP c.174_175delinsTT which creates a stopgain at p.Gly59* (and a missense at p.58). Patient‑derived fibroblasts and myoblasts show impaired pyruvate‑driven mitochondrial respiration that is rescued by TXNIP re‑constitution. However, patient cells showed no difference in cell growth or morphology, and had normal downstream TXN activity while Nrf2 target gene transcripts were upregulated. PMID 41116060 describes an additional individual with a severe metabolic disease; lactic acidosis, recurrent hypoglycaemia, significant developmental delay, epileptic seizures, and hypotonia. Homozygous for c.642_643insT p.(Ile215Tyrfs*59). Functional studies showed it disrupts SLC7A5-SLC3A2 endocytosis and cellular glucose uptake. Sources: Literature |
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| Mendeliome v1.1889 | SLC7A5 | Zornitza Stark Marked gene: SLC7A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1889 | SLC7A5 | Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1889 | SLC7A5 | Zornitza Stark Classified gene: SLC7A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1889 | SLC7A5 | Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1888 | SLC7A5 |
Sangavi Sivagnanasundram gene: SLC7A5 was added gene: SLC7A5 was added to Mendeliome. Sources: Other Mode of inheritance for gene: SLC7A5 was set to Unknown Publications for gene: SLC7A5 were set to 29884839 Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182) Review for gene: SLC7A5 was set to RED Added comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association. Sources: Other |
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