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| Intellectual disability v3.247 | PDP1 | Arina Puzriakova Classified gene: PDP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.247 | PDP1 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber, given the mild delay in psychomotor development seen in these patients. This gene is Green on other panels which are more relevant to the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.247 | PDP1 | Arina Puzriakova Gene: pdp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.246 | PDP1 | Arina Puzriakova reviewed gene: PDP1: Rating: ; Mode of pathogenicity: None; Publications: 15855260, 19184109, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | PDP1 |
Zornitza Stark gene: PDP1 was added gene: PDP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP1 were set to 19184109; 15855260; 31392110 Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Review for gene: PDP1 was set to GREEN gene: PDP1 was marked as current diagnostic Added comment: DD/ID is part of the phenotype of this metabolic condition. Sources: Expert list |
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