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| DDG2P v3.12 | ST14 | Achchuthan Shanmugasundram reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18445049, 17273967; Phenotypes: ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST14 | Achchuthan Shanmugasundram reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20533528, 20004762; Phenotypes: EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE, OMIM:601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ST14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST14. Mode of pathogenicity for gene ST14 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 | CHST14 | Achchuthan Shanmugasundram Publications for gene: CHST14 were updated from to 20533528; 20004762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ST14 | Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHST14 | Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ST14 |
Rebecca Foulger gene: ST14 was added gene: ST14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 18445049; 17273967 Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 Mode of pathogenicity for gene: ST14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHST14 |
Rebecca Foulger gene: CHST14 was added gene: CHST14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 |
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