Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | TMEM70 |
Ivone Leong Source NHS GMS was added to TMEM70. Source London North GLH was added to TMEM70. |
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| Likely inborn error of metabolism v0.4 | TMEM70 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex V deficiency; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: TMEM70 Publications for gene TMEM70 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | TMEM70 |
Ellen McDonagh gene: TMEM70 was added gene: TMEM70 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
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