Activity
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| Likely inborn error of metabolism v1.47 | ATPAF2 |
Ivone Leong Source NHS GMS was added to ATPAF2. Source London North GLH was added to ATPAF2. |
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| Likely inborn error of metabolism v0.4 | ATPAF2 |
Ellen McDonagh Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2 Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271 |
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| Likely inborn error of metabolism v0.4 | ATPAF2 |
Ellen McDonagh gene: ATPAF2 was added gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 27604308 Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex V deficiency; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
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