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Prepair 1000+ v1.3 SLC6A8 Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8
Prepair 1000+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)