| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.486 | 10q24 duplication syndrome Split hand foot malformation 3 |
Sarah Milton Region: 10q24 duplication syndrome Split hand foot malformation 3 was added Region: 10q24 duplication syndrome Split hand foot malformation 3 was added to Mendeliome. Sources: Literature Mode of inheritance for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to 30622331; 27600068; 38168117; 35908152; 23596994 Phenotypes for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Split-hand/foot malformation 3, gene duplication syndrome, MIM#246560 Penetrance for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Incomplete Review for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to GREEN Added comment: Tandem genomic duplications at chromosome 10q24 have been reported in at least 50 affected individuals from over 30 families with split hand foot malformation. Duplications encompassed protein coding genes FBXW4, BTRC and ranged in size from 120kb to 597kb. Interestingly very large duplications did not seem to recapitulate the phenotype. The critical gene/molecular mechanism remains unclear. Expression analysis showed BTRC and SUFU were overexpressed in patient cells and as such a beta catenin signalling pathway defect was proposed. Regulatory element disruption and positional effect was also noted as a possibility given all causative CNV’s were duplications. Some reduced penetrance noted. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | FBXW4 | Gene migrated from ENSG00000107829 to ENSG00000107829 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14693 | FBXW4 | Elena Savva Marked gene: FBXW4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14693 | FBXW4 | Elena Savva Gene: fbxw4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9215 | FBXW4 | Bryony Thompson Phenotypes for gene: FBXW4 were changed from to Split-hand/foot malformation 3 syndrome MIM#246560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9213 | FBXW4 | Bryony Thompson Publications for gene: FBXW4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9212 | FBXW4 | Bryony Thompson Classified gene: FBXW4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9212 | FBXW4 | Bryony Thompson Gene: fbxw4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9211 | FBXW4 | Bryony Thompson reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: 12913067, 16235095, 27600068; Phenotypes: Split-hand/foot malformation 3 syndrome MIM#246560; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | FBXW4 |
Zornitza Stark gene: FBXW4 was added gene: FBXW4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBXW4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||