Osteogenesis Imperfecta and Osteoporosis
Gene: SERPINF1EnsemblGeneIds (GRCh38): ENSG00000132386
EnsemblGeneIds (GRCh37): ENSG00000132386
OMIM: 172860, Gene2Phenotype
SERPINF1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association.
Onset of fractures is in infancy.
Treatment: bisphosphanates.
Non-genetic confirmatory testing: skeletal survey.Created: 26 Mar 2023, 10:46 p.m. | Last Modified: 26 Mar 2023, 10:46 p.m.
Panel Version: 0.93
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VI, MIM# 613982
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteogenesis imperfecta, type VI, MIM# 613982
- OMIM
- 172860
- Clinvar variants
- Variants in SERPINF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SERPINF1 were changed from to Osteogenesis imperfecta, type VI, MIM# 613982
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SERPINF1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SERPINF1 was added gene: SERPINF1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINF1 was set to Unknown