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| DDG2P v6.212 | IQSEC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IQSEC1 | Achchuthan Shanmugasundram edited their review of gene: IQSEC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC1-related intellectual disability, developmental delay, and short stature are strong, biallelic_autosomal and undetermined (PMID:31607425). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02832.; Changed phenotypes to: IQSEC1-related intellectual disability, developmental delay, and short stature, OMIM:618687.0, Intellectual Disability, Developmental Delay, and Short Stature, MONDO:0032870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC1 | Achchuthan Shanmugasundram reviewed gene: IQSEC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31607425; Phenotypes: Intellectual Disability, Developmental Delay, and Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IQSEC1 |
Achchuthan Shanmugasundram gene: IQSEC1 was added gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC1 were set to 31607425 Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature Mode of pathogenicity for gene: IQSEC1 was set to Other |
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