Osteogenesis imperfecta
Gene: SERPINF1
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SERPINF1; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
https://oi.gene.le.ac.uk/home.php?select_db=SERPINF1Created: 8 Dec 2015, noon
Variants for this gene may be viewed at https://oi.gene.le.ac.uk/home.php?select_db=SERPINF1Created: 26 Nov 2015, 1:14 p.m.
Source NHS GMS was added to SERPINF1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982; Osteogenesis Imperfecta, Recessive; osteogenesis imperfecta
Publications for SERPINF1 were set to 23054245; 21353196
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SERPINF1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services
SERPINF1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
SERPINF1 was added to Osteogenesis Imperfecta panel. Sources: Expert