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| DDG2P v3.12 | EXPH5 | Achchuthan Shanmugasundram reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176819; Phenotypes: INHERITED SKIN FRAGILITY, OMIM:615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXPH5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXPH5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | EXPH5 | Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EXPH5 |
Rebecca Foulger gene: EXPH5 was added gene: EXPH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXPH5 were set to 23176819 Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY 615028 |
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