Activity
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| DDG2P v3.12 | ATP7A | Achchuthan Shanmugasundram reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8149649, 11431706, 15372525, 19194885, 9246006, 17108763, 20170900, 10739752, 14635105, 9894833, 12221109, 19153371, 7842019, 8812725; Phenotypes: MENKES DISEASE, OMIM:309400, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP7A | Achchuthan Shanmugasundram Publications for gene: ATP7A were updated from 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 to 8149649; 11431706; 15372525; 19194885; 9246006; 17108763; 20170900; 10739752; 14635105; 9894833; 12221109; 19153371; 7842019; 8812725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP7A | Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATP7A |
Rebecca Foulger Added phenotypes MENKES DISEASE 309400 for gene: ATP7A Publications for gene ATP7A were changed from 20170900; 19153371 to 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 |
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| DDG2P v0.1 | ATP7A |
Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371 |
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| DDG2P v0.1 | ATP7A |
Rebecca Foulger gene: ATP7A was added gene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006 Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150 |
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