| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.95 | SF3B3 | Zornitza Stark Marked gene: SF3B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.95 | SF3B3 | Zornitza Stark Gene: sf3b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.95 | SF3B3 | Zornitza Stark Classified gene: SF3B3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.95 | SF3B3 | Zornitza Stark Gene: sf3b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.94 | SF3B3 |
Zornitza Stark gene: SF3B3 was added gene: SF3B3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SF3B3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B3 were set to 41709284 Phenotypes for gene: SF3B3 were set to Neurodevelopmental disorder, MONDO:0700092, SF3B3-related Review for gene: SF3B3 was set to GREEN Added comment: PMID 41709284 reports 24 individuals from 24 families with de novo heterozygous loss-of-function (haploinsufficiency) SF3B3 variants presenting with a syndromic neurodevelopmental disorder characterised by autism, developmental delay, intellectual disability, language and motor delay, multiple congenital anomalies and distinctive facial features. Functional assays in patient-derived fibroblasts demonstrate reduced SF3B3 protein levels, proteasome-mediated degradation and transcriptomic/splicing dysregulation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||