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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. HPGD
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GMS Musculoskeletal specialist test group 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

2 reviews

Eleanor Williams (Genomics England Curator)

updated. Reviews are correct. Only affects internal panel.
Created: 3 May 2019, 9:59 a.m.
Created: 3 May 2019, 9:59 a.m.

Panel version: 0.30

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Other sclerosing bone disorders gp of SD. Het carriers can have mild skeletal features. Several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

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

History Filter Activity

3 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: HPGD were changed from Au-Kline syndrome:616580; Orphanet:453499 to Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100

3 May 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: HPGD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: HPGD was added gene: HPGD was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HPGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HPGD were set to Au-Kline syndrome:616580; Orphanet:453499