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| DDG2P v6.389 | TRAPPC2L | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAPPC2L was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRAPPC2L | Achchuthan Shanmugasundram edited their review of gene: TRAPPC2L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis are limited, biallelic_autosomal and undetermined (PMIDs: 30120216, 32843486). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03196.; Changed publications to: 30120216, 32843486; Changed phenotypes to: TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331.0, TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331, MONDO:0032681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2L | Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2 | Achchuthan Shanmugasundram reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OMIM:313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRAPPC2L |
Achchuthan Shanmugasundram gene: TRAPPC2L was added gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 32843486; 30120216 Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Mode of pathogenicity for gene: TRAPPC2L was set to Other |
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| DDG2P v0.2 | TRAPPC2 | Rebecca Foulger reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 |
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