| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3290 | BBOX1 | Zornitza Stark Marked gene: BBOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3290 | BBOX1 | Zornitza Stark Gene: bbox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3290 | BBOX1 | Zornitza Stark Classified gene: BBOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3290 | BBOX1 | Zornitza Stark Gene: bbox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3289 | BBOX1 |
Zornitza Stark gene: BBOX1 was added gene: BBOX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBOX1 were set to 41022783 Phenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related Review for gene: BBOX1 was set to AMBER Added comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation Sources: Literature |
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