Skeletal Dysplasia_Fetal
Gene: SERPINF1EnsemblGeneIds (GRCh38): ENSG00000132386
EnsemblGeneIds (GRCh37): ENSG00000132386
OMIM: 172860, Gene2Phenotype
SERPINF1 is in 9 panels
1 review
Chirag Patel (Genetic Health Queensland)
Osteogenesis imperfecta, type VI not presenting antenatally. Not suitable for fetal anomalies panel.Created: 14 Jan 2022, 3:52 a.m. | Last Modified: 14 Jan 2022, 3:52 a.m.
Panel Version: 0.2187
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 172860
- Clinvar variants
- Variants in SERPINF1
- Penetrance
- None
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinf1 has been classified as Red List (Low Evidence).
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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINF1 was set to Unknown