Osteogenesis imperfecta
Gene: SERPINH1
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: SERPINH1; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
https://oi.gene.le.ac.uk/home.php?select_db=SERPINH1Created: 8 Dec 2015, noon
Source NHS GMS was added to SERPINH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for SERPINH1 were set to {Preterm premature rupture of the membranes, susceptibility to}, 610504; Osteogenesis imperfecta, type X, 613848; Osteogenesis Imperfecta, Recessive; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal
SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services
SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen
SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Expert