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| DDG2P v3.12 | HESX1 | Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HESX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HESX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | HESX1 | Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HESX1 | Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 for gene: HESX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HESX1 |
Rebecca Foulger gene: HESX1 was added gene: HESX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA 256657 |
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