| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dilated Cardiomyopathy v2.2 | FBXO32 | chirag patel Classified gene: FBXO32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.2 | FBXO32 | chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.1 | FBXO32 | chirag patel Marked gene: FBXO32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.1 | FBXO32 | chirag patel Gene: fbxo32 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.1 | FBXO32 |
chirag patel gene: FBXO32 was added gene: FBXO32 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: FBXO32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO32 were set to 36344977; 34272480; 26768247; 26753747 Phenotypes for gene: FBXO32 were set to Dilated cardiomyopathy, MONDO:0005021, FBXO32-related Review for gene: FBXO32 was set to AMBER Added comment: PMID 26768247, PMID 36344977 and PMID 26753747 report 10 individuals from 3 unrelated consanguineous families with homozygous variants in FBXO32 (but 2 families are from Saudi Arabia and have the same variant). Individuals had dilated cardiomyopathy with diagnosis in late childhood to early adulthood. The 2 homozygous variants were rare and shown to segregate in the family with unaffected heterozygous parents and siblings. The Saudi Arabian variant (p.Gly243Arg) was shown to severely impair binding to SCF proteins using co-immunoprecipitation experiments from cells expressing the mutant protein and from human heart tissue from 2 of the affected patients. Immunohistochemical analysis of the FBXO32 protein showed cytoplasmic staining with reduced expression in the left ventricle of the index case. The Iranian variant (p.Lys295del) was modelled in silico to show loss of nuclear localisation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||