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| DDG2P v3.12 | TMEM216 | Achchuthan Shanmugasundram reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20512146, 20036350; Phenotypes: JOUBERT SYNDROME 2, OMIM:608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM216 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM216. Mode of pathogenicity for gene TMEM216 was changed from Other - please provide details in the comments to Other Publications for gene: TMEM216 were updated from 20036350; 20512146 to 20512146; 20036350 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | TMEM216 | Rebecca Foulger reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TMEM216 |
Rebecca Foulger gene: TMEM216 was added gene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 20512146 Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091 Mode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments |
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