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Fetal anomalies v0.1647 | BCKDHA | Zornitza Stark Marked gene: BCKDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1647 | BCKDHA | Zornitza Stark Gene: bckdha has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1647 | BCKDHA | Zornitza Stark Phenotypes for gene: BCKDHA were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ia, MIM# 248600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1646 | BCKDHA | Zornitza Stark reviewed gene: BCKDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | BCKDHA |
Zornitza Stark gene: BCKDHA was added gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE |