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| Mitochondrial disease v2.0 | TMEM65 | Gene migrated from ENSG00000164983 to ENSG00000164983 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.24 | TMEM65 | Zornitza Stark Publications for gene: TMEM65 were set to 28295037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.23 | TMEM65 | Zornitza Stark edited their review of gene: TMEM65: Added comment: PMID 41980949 provides mouse whole‑body, neuronal‑specific and skeletal‑muscle‑specific TMEM65 knockout models that recapitulate severe mitochondrial encephalomyopathy and adult‑onset myopathy; rescue of early lethality by MCU knockout demonstrates that loss‑of‑function of TMEM65 is pathogenic.; Changed publications: 28295037, 41980949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.992 | TMEM65 | Zornitza Stark Phenotypes for gene: TMEM65 were changed from Mitochondrial disease, MONDO:0044970, TMEM65-related to Mitochondrial disease, MONDO:0044970, TMEM65-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.992 | TMEM65 | Zornitza Stark Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.991 | TMEM65 | Zornitza Stark edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | TMEM65 | Zornitza Stark Marked gene: TMEM65 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | TMEM65 | Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.211 | TMEM65 | Bryony Thompson Classified gene: TMEM65 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.211 | TMEM65 | Bryony Thompson Gene: tmem65 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.210 | TMEM65 | Bryony Thompson edited their review of gene: TMEM65: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.210 | TMEM65 |
Bryony Thompson changed review comment from: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries. Sources: NHS GMS; to: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries. Sources: NHS GMS |
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| Mitochondrial disease v0.210 | TMEM65 |
Bryony Thompson gene: TMEM65 was added gene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM65 were set to 28295037 Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries. Sources: NHS GMS |
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