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Severe Paediatric Disorders v0.12 NDUFB11 Louise Daugherty reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Publications for gene NDUFB11 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.10 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.8 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.7 NDUFB11 Louise Daugherty Source Next Generation Children Project was added to NDUFB11.
Severe Paediatric Disorders v0.5 NDUFB11 Louise Daugherty Source Expert Review Green was added to NDUFB11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 NDUFB11 Louise Daugherty gene: NDUFB11 was added
gene: NDUFB11 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NDUFB11 was set to