Activity
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| DDG2P v6.375 | TCEAL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TCEAL1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TCEAL1 | Achchuthan Shanmugasundram edited their review of gene: TCEAL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TCEAL1-related neurodevelopmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMIDs: 36368327, 38200082). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03454.; Changed publications to: 38200082, 36368327; Changed phenotypes to: TCEAL1-related neurodevelopmental disorder, OMIM:301094.0, MONDO:0859085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | TCEAL1 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: TCEAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCEAL1 | Achchuthan Shanmugasundram reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36368327; Phenotypes: TCEAL1-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCEAL1 |
Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to TCEAL1-related neurodevelopmental disorder Mode of pathogenicity for gene: TCEAL1 was set to Other |
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