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Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from X-LINKED CREATINE DEFICIENCY SYNDROME to Cerebral creatine deficiency syndrome 1 (MIM#300352)
Fetal anomalies v0.3404 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Fetal anomalies v0.3403 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Amber List (moderate evidence)
Fetal anomalies v0.3403 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3372 SLC6A8 Daniel Flanagan reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898126, 16738945, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1 (MIM#300352); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
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 X-LINKED CREATINE DEFICIENCY SYNDROME