Activity
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| DDG2P v6.5 | TSPAN7 | Ida Ertmanska reviewed gene: TSPAN7: Rating: ; Mode of pathogenicity: None; Publications: 10655063, 12376945, 14735593, 12070254, 22511893, 26290131; Phenotypes: Intellectual developmental disorder, X-linked 58, OMIM:300210, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TSPAN7 | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TSPAN7 | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, the gene should be rated Amber for Intellectual disability.; to: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, we decided to demote this gene to Amber for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TSPAN7 | Ida Ertmanska reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 10655063, 12376945, 14735593, 12070254, 22511893, 26290131; Phenotypes: Intellectual developmental disorder, X-linked 58, OMIM:300210, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSPAN7 | Achchuthan Shanmugasundram reviewed gene: TSPAN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655063, 10449641; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 58, OMIM:300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSPAN7 | Achchuthan Shanmugasundram Publications for gene: TSPAN7 were updated from 10449641; 10655063 to 10655063; 10449641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSPAN7 | Rebecca Foulger reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSPAN7 were set to 10449641; 10655063 Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210 |
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