Activity
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4 actions
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| Likely inborn error of metabolism v1.47 | COX7B |
Ivone Leong Source NHS GMS was added to COX7B. Source London North GLH was added to COX7B. |
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| Likely inborn error of metabolism v0.4 | COX7B2 |
Ellen McDonagh gene: COX7B2 was added gene: COX7B2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7B2 was set to Unknown Phenotypes for gene: COX7B2 were set to ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 |
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| Likely inborn error of metabolism v0.4 | COX7B |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS for gene: COX7B Publications for gene COX7B were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | COX7B |
Ellen McDonagh gene: COX7B was added gene: COX7B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies; Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS |
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