Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: DHRS3
3 families, 2 with 2 individuals each with craniosynostosis (AW, unpublished) ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
coronal craniosynostosis, septal heart defects
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: amberCreated: 5 Mar 2019, 11:21 a.m.
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
Source NHS GMS was added to DHRS3.
This proposed gene was validated and added to this panel
DHRS3 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review
DHRS3 was created by awilkie