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Skeletal dysplasia

Gene: HPGD

Green List (high evidence)

HPGD (15-hydroxyprostaglandin dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000164120
EnsemblGeneIds (GRCh37): ENSG00000164120
OMIM: 601688, Gene2Phenotype
HPGD is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

established gene-disease association
Created: 24 Jan 2022, 5:24 a.m. | Last Modified: 24 Jan 2022, 5:24 a.m.
Panel Version: 0.10759

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100; Cranioosteoarthropathy MIM#259100

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Digital clubbing, isolated congenital 119900
  • Cranioosteoarthropathy 259100
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
OMIM
601688
Clinvar variants
Variants in HPGD
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPGD was added gene: HPGD was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HPGD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to Digital clubbing, isolated congenital 119900; Cranioosteoarthropathy 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100