| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v1.109 | NOTCH3 | chirag patel Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.109 | NOTCH3 | chirag patel Gene: notch3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.109 | NOTCH3 | chirag patel Classified gene: NOTCH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.109 | NOTCH3 | chirag patel Gene: notch3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.108 | NOTCH3 |
chirag patel gene: NOTCH3 was added gene: NOTCH3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH3 were set to 25394726,40256810; 32141180; 26754023 Phenotypes for gene: NOTCH3 were set to Lateral meningocele syndrome, MONDO:0007537 Review for gene: NOTCH3 was set to GREEN Added comment: 9 unrelated individuals with lateral meningocele syndrome and de novo heterozygous truncating variants in exon 33 of NOTCH3. This is a congenital skeletal dysplasia characterised by lateral spinal meningoceles, distinctive facial dysmorphism, joint hypermobility, congenital cardiac anomalies and vertebral anomalies (scoliosis, vertebral scalloping, vertebral fusion). No variant‑specific functional assays. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||