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| Skeletal dysplasia v1.0 | PFN1 | Gene migrated from ENSG00000108518 to ENSG00000108518 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.451 | PFN1 | Zornitza Stark Marked gene: PFN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.451 | PFN1 | Zornitza Stark Gene: pfn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.451 | PFN1 | Zornitza Stark Classified gene: PFN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.451 | PFN1 | Zornitza Stark Gene: pfn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.450 | PFN1 |
Zornitza Stark gene: PFN1 was added gene: PFN1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PFN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PFN1 were set to 33599011; 32392277; 31991009; 31346562 Phenotypes for gene: PFN1 were set to Paget disease of bone 7, early-onset, MIM# 621600 Review for gene: PFN1 was set to AMBER Added comment: Three multiplex families reported with same variant, c.318_321delTGAC, and Paget's disease of bone. Two are from the same region in Italy, whereas the third is Chinese, making a founder variant less likely. Functional studies of this truncating variant showed abnormal protein aggregates (PMID: 32392277, 31991009). An osteoclast-specific conditional null mouse model confirmed the skeletal phenotype (PMID: 31346562). Sources: Literature |
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