GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SERPINH1

SERPINH1 (serpin family H member 1)
EnsemblGeneIds (GRCh38): ENSG00000149257
EnsemblGeneIds (GRCh37): ENSG00000149257
OMIM: 600943, Gene2Phenotype
SERPINH1 is in 3 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

OI - at least 2 families reported plus Dachshund nature model also with OI. ? Green - ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

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

OMIM

600943

Clinvar variants

Variants in SERPINH1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SERPINH1 was added gene: SERPINH1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to 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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SERPINH1