| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3576 | STARD9 | Zornitza Stark Marked gene: STARD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3576 | STARD9 | Zornitza Stark Gene: stard9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3576 | STARD9 | Rylee Peters Classified gene: STARD9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3576 | STARD9 | Rylee Peters Gene: stard9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3572 | STARD9 |
Rylee Peters gene: STARD9 was added gene: STARD9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: STARD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STARD9 were set to 41137852; 28777490 Phenotypes for gene: STARD9 were set to Syndromic disorder (MONDO:0002254), STARD9-related Review for gene: STARD9 was set to AMBER Added comment: STARD9 enables microtubule binding activity, motor activity and is involved in spindle assembly. PMID: 41137852 | 1x cHet individual with early-onset febrile seizures followed by atypical absence seizures. The two missense identified, p.(Leu694Phe) and p.(Met3409Val), have 5 hets and 125 hets respectively in gnomAD v4. PMID: 28777490 | 1x hom individual with a frameshift variant, p.(L3920fs*38). Patient had severe intellectual disability, epilepsy, dysmorphic features, acquired microcephaly, and blindness. Patient cells showed mitotic spindle assembly defects. Sources: Literature |
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