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| Mendeliome v0.7937 | SMPDL3A |
Seb Lunke 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 |
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| Mendeliome v0.7936 | SMPDL3A | Seb Lunke Marked gene: SMPDL3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7936 | SMPDL3A | Seb Lunke Gene: smpdl3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7936 | SMPDL3A |
Seb Lunke gene: SMPDL3A was added gene: SMPDL3A was added to Mendeliome. 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 Added comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation Sources: Literature |
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