| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pain syndromes v1.9 | SMPDL3A |
Zornitza Stark changed review comment from: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation Sources: Literature; to: Hom missense variant in twin sisters with severely reduced pain and temperature sensation Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pain syndromes v1.9 | SMPDL3A |
Zornitza Stark 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||