Activity
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8 actions
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| DDG2P v6.265 | NDST1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDST1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDST1 | Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDST1-related intellectual disability with or without seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 25125150, 27620904, 28211985, 28600779, 31164858, 32878022, 38129107). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00677.; Changed publications to: 31164858, 28211985, 32878022, 28600779, 21937992, 38129107, 25125150, 27620904; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | NDST1 | Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category for the disease NDST1-related intellectual disability with or without seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38129107;27620904;31164858;21937992;28600779;32878022;25125150;28211985).; Changed rating: GREEN; Changed publications to: 27620904, 31164858, 38129107, 28211985, 28600779, 32878022, 21937992, 25125150; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | NDST1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDST1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | NDST1 | Achchuthan Shanmugasundram reviewed gene: NDST1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDST1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDST1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDST1 | Rebecca Foulger reviewed gene: NDST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDST1 |
Rebecca Foulger gene: NDST1 was added gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDST1 were set to 21937992 Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments |
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