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Severe Paediatric Disorders v0.17 ATP7A Louise Daugherty Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 ATP7A Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ATP7A Louise Daugherty Publications for gene ATP7A were updated from to 30847515
Severe Paediatric Disorders v0.10 ATP7A Louise Daugherty Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A
Severe Paediatric Disorders v0.9 ATP7A Louise Daugherty Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A
Severe Paediatric Disorders v0.9 ATP7A Louise Daugherty Added phenotypes Spinal muscular atrophy, distal, X-linked 3, 300489; Menkes disease, 309400; Occipital horn syndrome, 304150 for gene: ATP7A
Severe Paediatric Disorders v0.8 ATP7A Louise Daugherty Added phenotypes Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489 for gene: ATP7A
Severe Paediatric Disorders v0.7 ATP7A Louise Daugherty Source Next Generation Children Project was added to ATP7A.
Severe Paediatric Disorders v0.5 ATP7A Louise Daugherty Source Expert Review Green was added to ATP7A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ATP7A Louise Daugherty gene: ATP7A was added
gene: ATP7A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ATP7A was set to