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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