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Fetal anomalies v0.3073 PDHX Zornitza Stark Marked gene: PDHX as ready
Fetal anomalies v0.3073 PDHX Zornitza Stark Gene: pdhx has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3073 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY to Lactic acidaemia due to PDX1 deficiency MIM#245349
Fetal anomalies v0.3072 PDHX Zornitza Stark Publications for gene: PDHX were set to
Fetal anomalies v0.3071 PDHX Zornitza Stark Classified gene: PDHX as Amber List (moderate evidence)
Fetal anomalies v0.3071 PDHX Zornitza Stark Gene: pdhx has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2951 PDHX Ain Roesley reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20002125 34873726 33092611 30981218 25087164 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY