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  3. SERPINH1
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Osteogenesis Imperfecta and Osteoporosis

Gene: SERPINH1

Green List (high evidence)
SERPINH1 (serpin family H member 1)
EnsemblGeneIds (GRCh38): ENSG00000149257
EnsemblGeneIds (GRCh37): ENSG00000149257
OMIM: 600943, Gene2Phenotype
SERPINH1 is in 10 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33524049: homozygous missense in one child.

OMIM: Multiple families reported with AR osteogenesis imperfecta
Created: 12 Apr 2021, 5:23 a.m. | Last Modified: 12 Apr 2021, 5:23 a.m.
Panel Version: 0.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta

Publications

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

Created: 12 Apr 2021, 5:23 a.m.
Last Modified: 12 Apr 2021, 5:23 a.m.
Panel version: 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type X, MIM# 613848
OMIM
600943
Clinvar variants
Variants in SERPINH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SERPINH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SERPINH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINH1 were set to 33524049

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINH1 were set to

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X, MIM# 613848 to Osteogenesis imperfecta, type X, MIM# 613848

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINH1 were changed from to Osteogenesis imperfecta, type X, MIM# 613848

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: serpinh1 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINH1 was added gene: SERPINH1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINH1 was set to Unknown