| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mackenzie's Mission_Reproductive Carrier Screening v1.0 | ALDH4A1 | Gene migrated from ENSG00000159423 to ENSG00000159423 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.110 | ALDH4A1 |
Sinead OSullivan gene: ALDH4A1 was added gene: ALDH4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 9700195 34037900 31884946 Review for gene: ALDH4A1 was set to GREEN Added comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||