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| DDG2P v6.213 | IQSEC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC2 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IQSEC2 | Achchuthan Shanmugasundram edited their review of gene: IQSEC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC2-related intellectual developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 20473311, 21686261, 23674175, 24306141, 26733290, 26793055, 27665735, 28295038, 28815955, 29026562, 30206421, 30666632, 30842726, 31415821, 31439632, 31490346, 31829726, 32529990, 32564198, 32761587, 33494955, 34484768, 35347702, 35446980, 36012761, 36267700, 36444437, 36684544, 37761403). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00063.; Changed publications to: 33494955, 28815955, 36684544, 30842726, 30666632, 26733290, 34484768, 26793055, 31490346, 30206421, 23674175, 28295038, 32529990, 37761403, 32761587, 36444437, 31415821, 24306141, 27665735, 20473311, 29026562, 31439632, 31829726, 35446980, 21686261, 36012761, 35347702, 32564198, 36267700; Changed phenotypes to: MONDO:0010656, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530, OMIM:309530.0, IQSEC2-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC2 | Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24306141, 26793055, 29026562, 26733290, 27665735, 30206421, 23674175, 31415821, 31490346, 31829726, 28295038, 20473311, 28815955, 30666632; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IQSEC2 |
Achchuthan Shanmugasundram Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632 |
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| DDG2P v0.2 | IQSEC2 | Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments |
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