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Paediatric or syndromic cardiomyopathy v0.16 | COX7B | Ivone Leong edited their review of gene: COX7B: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.15 | COX7B |
Ivone Leong Source Expert Review Amber was added to COX7B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Paediatric or syndromic cardiomyopathy v0.6 | COX7B |
Ivone Leong gene: COX7B was added gene: COX7B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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 2, 300887 |