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Intellectual disability v4.53 | TPP2 | Arina Puzriakova Tag Q3_22_rating was removed from gene: TPP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v4.53 | TPP2 | Arina Puzriakova reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v4.52 | TPP2 |
Arina Puzriakova Source NHS GMS was added to TPP2. Source Expert Review Green was added to TPP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Intellectual disability v3.1730 | TPP2 | Arina Puzriakova Tag Q3_22_MOI was removed from gene: TPP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1730 | TPP2 | Eleanor Williams Classified gene: TPP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1730 | TPP2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber with a recommendation for GREEN rating following GMS review. Clinical advice was to be inclusive since the intellectual disability phenotype is relatively consistent. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1730 | TPP2 | Eleanor Williams Gene: tpp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1729 | TPP2 |
Eleanor Williams Tag Q3_22_rating tag was added to gene: TPP2. Tag Q3_22_MOI tag was added to gene: TPP2. |
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Intellectual disability v3.1668 | TPP2 | Eleanor Williams commented on gene: TPP2: As the first presentation for patients is features of immune deficiency and autoimmunity, seeking clinical input before proposing a rating for this gene on the intellectual disability panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1668 | TPP2 | Eleanor Williams Publications for gene: TPP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1667 | TPP2 | Eleanor Williams reviewed gene: TPP2: Rating: ; Mode of pathogenicity: None; Publications: 33586135, 25414442, 25525876, 30533531; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1667 | TPP2 |
Eleanor Williams gene: TPP2 was added gene: TPP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 |