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Fetal anomalies v0.4343 HEXB Zornitza Stark Marked gene: HEXB as ready
Fetal anomalies v0.4343 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Fetal anomalies v0.4343 HEXB Zornitza Stark Classified gene: HEXB as Red List (low evidence)
Fetal anomalies v0.4343 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Fetal anomalies v0.4275 HEXB Krithika Murali gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 23046579; 24613245; 33407268; 27697305; 11869411; 33363784
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800
Review for gene: HEXB was set to RED
Added comment: Biallelic variants associated with Sandhoff disease which includes a severe, infantile onset form. Authors of reported cases note normal antenatal and immediate postnatal course with onset of phenotypic features generally from 2 months of age onwards. Note subset with cardiomyopathy and secondary valvular incompetence, not congenital heart defects.
Sources: Literature
Fetal anomalies v0.2076 Zornitza Stark removed gene:HEXB from the panel
Fetal anomalies v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2