Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.17 COX7B Louise Daugherty Mode of inheritance for gene COX7B 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 v0.12 COX7B Louise Daugherty reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 COX7B Louise Daugherty Publications for gene COX7B were updated from to 30847515
Severe Paediatric Disorders v0.10 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.8 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.7 COX7B Louise Daugherty Source Next Generation Children Project was added to COX7B.
Severe Paediatric Disorders v0.5 COX7B Louise Daugherty Source Expert Review Green was added to COX7B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 COX7B Louise Daugherty gene: COX7B was added
gene: COX7B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: COX7B was set to