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| DDG2P v3.12 | TAC3 | Achchuthan Shanmugasundram reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAC3 | Achchuthan Shanmugasundram reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777491, 33820833, 30168660, 33060286, 28411587; Phenotypes: STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAC3. Mode of pathogenicity for gene TAC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STAC3 |
Achchuthan Shanmugasundram gene: STAC3 was added gene: STAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28777491; 33820833; 30168660; 33060286; 28411587 Phenotypes for gene: STAC3 were set to STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 |
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| DDG2P v0.2 | TAC3 | Rebecca Foulger reviewed gene: TAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TAC3 |
Rebecca Foulger gene: TAC3 was added gene: TAC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAC3 were set to 19079066 Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110 Mode of pathogenicity for gene: TAC3 was set to Other - please provide details in the comments |
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