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| Skeletal dysplasia v1.155 | SERPINH1 |
Eleanor Williams commented on gene: SERPINH1: 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. |
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| Skeletal dysplasia v1.153 | SERPINH1 |
Eleanor Williams 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 |
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| Skeletal dysplasia v1.147 | SERPINH1 | Tracy Lester reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20188343, 25510505; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | SERPINH1 | Eleanor Williams reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | SERPINH1 |
Eleanor Williams Source NHS GMS was added to SERPINH1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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