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  2. Autosomal recessive primary hypertrophic osteoarthropathy
  3. HPGD
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Autosomal recessive primary hypertrophic osteoarthropathy

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: HPGD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 1; 259100

Created: 28 Jan 2019, 11:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
OMIM
601688
Clinvar variants
Variants in HPGD
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: HPGD were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to HPGD.

28 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: HPGD were changed from 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HPGD was added gene: HPGD was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1