1. Panels
  2. Osteogenesis imperfecta
  3. SERPINH1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Osteogenesis imperfecta

Gene: SERPINH1

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

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 3 Apr 2019, 4:08 p.m.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=SERPINH1
Created: 8 Dec 2015, noon
Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • {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
OMIM
600943
Clinvar variants
Variants in SERPINH1
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SERPINH1. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

23 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SERPINH1 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINH1 was added to Osteogenesis Imperfecta panel. Sources: Expert