Skeletal dysplasia
Gene: DHODH
Dysostoses with predominant craniofacial involvement gp of SD. Several cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome (postaxial acrofacial dysostosis) 263750
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: DHODH; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 9:12 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome 263750
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 for gene: DHODH
Source NHS GMS was added to DHODH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750
Mode of inheritance for DHODH was changed to BIALLELIC, autosomal or pseudoautosomal
DHODH was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
DHODH was created by sleigh
DHODH was added to Unexplained skeletal dysplasiapanel. Sources: