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| Haemophagocytic syndrome with absent perforin expression v1.3 | PRF1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with MIM #603553 in OMIM and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemophagocytic syndrome with absent perforin expression v1.3 | PRF1 | Achchuthan Shanmugasundram Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; familial hemophagocytic lymphohistiocytosis 2, MONDO:0011337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemophagocytic syndrome with absent perforin expression v1.2 | PRF1 | Arina Puzriakova Phenotypes for gene: PRF1 were changed from to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemophagocytic syndrome with absent perforin expression v0.1 | PRF1 | Achchuthan Shanmugasundram reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemophagocytic syndrome with absent perforin expression v0.1 | PRF1 |
Achchuthan Shanmugasundram gene: PRF1 was added gene: PRF1 was added to Haemophagocytic syndrome with absent perforin expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal |
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