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| DDG2P v3.12 | TMEM199 | Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833330; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM199 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.78 | TMEM199 | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for Disorder of Golgi homeostasis: child IF.; to: Original DDG2P rating for Disorder of Golgi homeostasis: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | TMEM199 | Rebecca Foulger commented on gene: TMEM199: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Disorder of Golgi homeostasis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM199 | Rebecca Foulger reviewed gene: TMEM199: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TMEM199 |
Rebecca Foulger gene: TMEM199 was added gene: TMEM199 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Disorder of Golgi homeostasis |
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