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  2. Coarse facial features including Coffin-Siris-like disorders
  3. HPGD
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Coarse facial features including Coffin-Siris-like disorders

Gene: HPGD

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Most likely to present as a skeletal dysplasia rather than with coarse facial features
Created: 23 Nov 2016, 10:37 a.m.
Created: 23 Nov 2016, 10:37 a.m.

Panel version: 0.51

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary hypertrophic osteoarthropathy, 259100

Publications

Created: 7 Feb 2016, 2:11 p.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Primary hypertrophic osteoarthropathy autosomal recessive 1, 259100
OMIM
601688
Clinvar variants
Variants in HPGD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

7 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

HPGD was created by alicegardham

7 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

HPGD was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature