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| DDG2P v3.12 | TPP2 | Achchuthan Shanmugasundram reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33586135, 25414442, 25525876; Phenotypes: TPP2-related immune deficiency, autoimmune disease and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TPP2. Source DD-Gene2Phenotype was added to TPP2. Added phenotypes TPP2-related immune deficiency, autoimmune disease and intellectual disability for gene: TPP2 Publications for gene: TPP2 were updated from PMID: 25414442 to 33586135; 25414442; PMID: 25414442; 25525876 Rating Changed from No List (delete) to Green List (high evidence) |
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| DDG2P v2.78 | TPP2 |
Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence. |
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| DDG2P v2.78 | TPP2 | Eleanor Williams commented on gene: TPP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TPP2 |
Dmitrijs Rots gene: TPP2 was added gene: TPP2 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to PMID: 25414442 Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature. Sources: Literature |
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