| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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| 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 |
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