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| Monogenic Diabetes v1.23 | MT-TG |
chirag patel gene: MT-TG was added gene: MT-TG was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL Publications for gene: MT-TG were set to 27519417 Phenotypes for gene: MT-TG were set to Maternally-inherited diabetes and deafness, MONDO:0010785 Review for gene: MT-TG was set to GREEN Added comment: PMID 27519417 reports 12 individuals from 3 Han Chinese families with homoplasmic mtDNA m.14692A>G (MT‑TG) variant presenting with maternally inherited diabetes and deafness (MIDD). Affected persons showed diabetes mellitus, sensorineural hearing loss and variable penetrance. Patient‑derived lymphoblastoid cell lines show loss of ψ55 modification, reduced tRNA Glu steady‑state level, impaired mitochondrial translation, decreased respiratory complex activity, lowered OCR and ATP production, reduced membrane potential and increased ROS. Sources: Literature |
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| Monogenic Diabetes v1.0 | AIRE | Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.160 | AIRE | chirag patel Marked gene: AIRE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.160 | AIRE | chirag patel Gene: aire has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.160 | chirag patel Copied gene AIRE from panel Adrenal insufficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.160 | AIRE |
chirag patel gene: AIRE was added gene: AIRE was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 |
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| Monogenic Diabetes v0.146 | TMEM167A |
chirag patel gene: TMEM167A was added gene: TMEM167A was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM167A were set to PMID: 40924476 Phenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Review for gene: TMEM167A was set to GREEN Added comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). Whole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. Microcephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. Sources: Literature |
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| Monogenic Diabetes v0.76 | TRMT10A | Zornitza Stark Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.74 | TRMT10A | Hali Van Niel reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34541035, 24204302, 25053765, 26297882, 35137278; Phenotypes: microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26297882; 24204302 Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 |
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