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| Pain syndromes v0.35 | SMPDL3A | Zornitza Stark Phenotypes for gene: SMPDL3A were changed from Sensory Neuropathy to Sensory Neuropathy MONDO:0002321, SMPDL3A-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.34 | SMPDL3A | Zornitza Stark reviewed gene: SMPDL3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sensory Neuropathy MONDO:0002321, SMPDL3A-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.27 | SMPDL3A | Seb Lunke Marked gene: SMPDL3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.27 | SMPDL3A | Seb Lunke Gene: smpdl3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v0.27 | SMPDL3A |
Seb Lunke gene: SMPDL3A was added gene: SMPDL3A was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPDL3A were set to 33884296 Phenotypes for gene: SMPDL3A were set to Sensory Neuropathy Review for gene: SMPDL3A was set to RED Added comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation Sources: Literature |
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