Activity
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7 actions
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| DDG2P v6.440 | TMEM94 | Arina Puzriakova Tag gene-checked was removed from gene: TMEM94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.14 | TMEM94 | Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | TMEM94 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM94 | Achchuthan Shanmugasundram reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526868; Phenotypes: Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM94 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM94. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | TMEM94 | Rebecca Foulger reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | TMEM94 |
Rebecca Foulger gene: TMEM94 was added gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to 30526868 Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism |
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