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| Severe combined immunodeficiency with PNP deficiency v1.2 | PNP | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613179) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe combined immunodeficiency with PNP deficiency v1.2 | PNP | Achchuthan Shanmugasundram Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, OMIM:613179; purine nucleoside phosphorylase deficiency, MONDO:0013171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe combined immunodeficiency with PNP deficiency v0.1 | PNP | Achchuthan Shanmugasundram reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe combined immunodeficiency with PNP deficiency v0.1 | PNP |
Achchuthan Shanmugasundram gene: PNP was added gene: PNP was added to Severe combined immunodeficiency with PNP deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal |
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| Severe combined immunodeficiency with PNP deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Severe combined immunodeficiency with PNP deficiency Set list of related panels to R234 Set panel types to: GMS Rare Disease |
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