Craniosynostosis

Gene: DHRS3

Red List (low evidence)

DHRS3 (dehydrogenase/reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000162496
EnsemblGeneIds (GRCh37): ENSG00000162496
OMIM: 612830, Gene2Phenotype
DHRS3 is in 2 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

3 families, 2 with 2 individuals each with craniosynostosis (AW, unpublished) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coronal craniosynostosis, septal heart defects

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DHRS3; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Findings based on one family homozygous for 4 kb deletion including DHRS3 gene. Conclusions supported by functional evidence demonstrating grossly reduced DHRS3 expression and increase in plasma all-trans retinoic acid.
Created: 18 Oct 2017, 9:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coronal craniosynostosis, septal heart defects

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • coronal craniosynostosis, septal heart defects
OMIM
612830
Clinvar variants
Variants in DHRS3
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DHRS3.

20 Oct 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

18 Oct 2017, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

DHRS3 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review

18 Oct 2017, Gel status: 0

Created

Andrew Wilkie (University of Oxford)

DHRS3 was created by awilkie