Activity
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4 actions
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| DDG2P v6.233 | LETM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LETM1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LETM1 | Achchuthan Shanmugasundram edited their review of gene: LETM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LETM1-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36055214). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03409.; Changed phenotypes to: OMIM:620089.0, MONDO:0859304, LETM1-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LETM1 | Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36055214; Phenotypes: LETM1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LETM1 |
Achchuthan Shanmugasundram gene: LETM1 was added gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder Mode of pathogenicity for gene: LETM1 was set to Other |
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