Activity
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2 actions
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| DDG2P v6.17 | TRAPPC6B | Achchuthan Shanmugasundram reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28626029, 40350395, 37713627, 31687267; Phenotypes: MONDO:0060640, OMIM:617862.0, TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TRAPPC6B |
Achchuthan Shanmugasundram gene: TRAPPC6B was added gene: TRAPPC6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 31687267; 40350395; 37713627; 28626029 Phenotypes for gene: TRAPPC6B were set to TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; MONDO:0060640; OMIM:617862.0 |
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