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  2. Skeletal Dysplasia_Fetal
  3. SERPINH1
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Skeletal Dysplasia_Fetal

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Prenatal onset of fractures reported.
Created: 20 Jan 2022, 7:46 a.m. | Last Modified: 20 Jan 2022, 7:46 a.m.
Panel Version: 0.2554

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type X, MIM# 613848

Publications

Created: 20 Jan 2022, 7:46 a.m.
Last Modified: 20 Jan 2022, 7:46 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2554

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Osteogenesis imperfecta, type X not presenting antenatally. Not suitable for fetal anomalies panel.
Created: 14 Jan 2022, 3:54 a.m. | Last Modified: 14 Jan 2022, 3:54 a.m.
Panel Version: 0.2189
Created: 14 Jan 2022, 3:54 a.m.
Last Modified: 14 Jan 2022, 3:54 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2189

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
600943
Clinvar variants
Variants in SERPINH1
Penetrance
None
Panels with this gene

History Filter Activity

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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINH1 was set to Unknown