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| Skeletal dysplasia v2.73 | PFN1 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber. There are 3 familial cases reported but they all come from the same region of Italy and have the same variant, so possible founder effect. There is some functional data and some CNV data in addition.; to: Comment on list classification: Promoting from grey to amber. There are 3 familial cases reported but they all come from the same region of Italy and have the same variant, so possible founder effect. There is some functional data and some CNV data in addition. Wait for confirmation of this gene's involvement in Paget disease of bone in probands with different variants or that are confirmed as unrelated to the cases already described. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.73 | PFN1 | Eleanor Williams Phenotypes for gene: PFN1 were changed from Paget’s disease of bone to Paget’s disease of bone; bone Paget disease MONDO:0005382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.72 | PFN1 | Eleanor Williams Classified gene: PFN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.72 | PFN1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. There are 3 familial cases reported but they all come from the same region of Italy and have the same variant, so possible founder effect. There is some functional data and some CNV data in addition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.72 | PFN1 | Eleanor Williams Gene: pfn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.71 | PFN1 | Eleanor Williams edited their review of gene: PFN1: Changed rating: AMBER; Changed phenotypes: bone Paget disease MONDO:0005382; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.71 | PFN1 | Eleanor Williams commented on gene: PFN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.20 | 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 32392277; 31991009; 31346562; 32589291; 22801503 Phenotypes for gene: PFN1 were set to Paget’s disease of bone Review for gene: PFN1 was set to AMBER Added comment: A new phenotype association for this gene has been reported: Paget’s disease of bone (PDB). Haploinsuffciency has been linked to PDB in 2 families with the same truncating frameshift variant (unsure if the families are related, both families are from the same region in Italy). 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). Missense variants in this gene have been previously associated with ALS (PMID: 22801503). Due to these different phenotype associations, it has been suggested that this gene can cause multisystem proteinopathy (PMID: 32589291). Sources: Literature |
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