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| DDG2P v3.12 | HSPG2 | Achchuthan Shanmugasundram reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11101850, 11279527, 11941538; Phenotypes: DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE, OMIM:224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HSPG2 | Achchuthan Shanmugasundram Publications for gene: HSPG2 were updated from 11279527 to 11101850; 11941538; 11279527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSPG2 | Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSPG2 |
Rebecca Foulger Added phenotypes DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 for gene: HSPG2 Publications for gene HSPG2 were changed from 11101850; 11941538 to 11279527 |
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| DDG2P v0.1 | HSPG2 |
Rebecca Foulger gene: HSPG2 was added gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPG2 were set to 11101850; 11941538 Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800 |
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