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| DDG2P v3.12 | PLP1 | Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLP1 | Achchuthan Shanmugasundram Publications for gene: PLP1 were updated from 17438221; 9489796; 8320699; 8956049; 14452137 to 9056547; 8723686; 1384324; 8786077; 11071483; 7573159; 14452137; 8659540; 7574457; 8956049; 2773936; 1715570; 1605230; 7683951; 1720927; 8320699; 9489796; 17438221; 8696336; 2480601; 3827224; 1707231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLP1 | Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLP1 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 for gene: PLP1 Publications for gene PLP1 were changed from 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 to 17438221; 9489796; 8320699; 8956049; 14452137 |
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| DDG2P v0.1 | PLP1 |
Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 |
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