Activity
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4 actions
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| DDG2P v3.12 | PTHLH | Achchuthan Shanmugasundram reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170896; Phenotypes: CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, BRACHYDACTYLY, TYPE E2, OMIM:613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PTHLH | Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTHLH |
Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 613382 for gene: PTHLH Publications for gene PTHLH were changed from to 20170896 |
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| DDG2P v0.1 | PTHLH |
Rebecca Foulger gene: PTHLH was added gene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS |
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