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Fetal anomalies v0.3693 HADH Zornitza Stark Marked gene: HADH as ready
Fetal anomalies v0.3693 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Fetal anomalies v0.3693 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Fetal anomalies v0.3692 HADH Zornitza Stark changed review comment from: Metabolic encephalopathy rather than ID; to: Metabolic encephalopathy, typically presents post-natally.
Fetal anomalies v0.3254 HADHB Zornitza Stark Marked gene: HADHB as ready
Fetal anomalies v0.3254 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fetal anomalies v0.3254 HADHB Zornitza Stark Classified gene: HADHB as Green List (high evidence)
Fetal anomalies v0.3254 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fetal anomalies v0.220 HADHA Zornitza Stark Marked gene: HADHA as ready
Fetal anomalies v0.220 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Fetal anomalies v0.220 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY to LCHAD deficiency, MIM# 609016
Fetal anomalies v0.219 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HADHA Ain Roesley reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172
Fetal anomalies v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY