Skeletal dysplasia
Gene: SERPINH1
OI - at least 2 families reported plus Dachshund nature model also with OI. ? Green - ; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OI3; {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
Publications
PMID: 20188343 - Christiansen et al 2010 - one individual with OI - identified an autosomal-recessive mutation in SERPINH1 (c.233T>C, p.Leu78Pro).
PMID: 25510505 - Duran et al 2015 - two affected siblings with a moderately severe form of OI. Homozygosity for a single nucleotide variant in SERPINH1 (c.710T>C, p.237Met>Thr) was identified. The parents were carriers of the sequence change.
Also Dachshund (dog) model of OI:
PMID: 19629171 - Drögemüller et al 2009 - investigated Dachshunds with an autosomal recessive form of OI. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. 11 affected dogs were homozygous C/C and all 13 known carriers were heterozygous C/T. Affected dogs iikely bred from a founder individual.Created: 7 May 2019, 10:46 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SERPINH1; Initial rating suggestion: I don't knowCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:51 a.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Osteogenesis imperfecta, type X 613848; {Preterm premature rupture of the membranes, susceptibility to} 610504
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteogenesis Imperfecta, Recessive; OI3; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; {Preterm premature rupture of the membranes, susceptibility to}, 610504; Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1 Publications for gene SERPINH1 were changed from to 25510505; 20188343
Source NHS GMS was added to SERPINH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
SERPINH1 was added to Unexplained skeletal dysplasiapanel. Source: Expert SERPINH1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen SERPINH1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services SERPINH1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SERPINH1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
SERPINH1 was created by sleigh
SERPINH1 was added to Unexplained skeletal dysplasiapanel. Sources: