Disorders of sex developmentGene: DHH
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least six variants reported
Created: 13 Sep 2016, 8:06 a.m.
Variable clinical presentation with different degrees of undervirilization. Often have minifascicular neuropathy. May be predominant steroidogenesis defect. Still very rare.
Created: 4 Feb 2016, 12:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Undervirilization often with minifascicular neuropathy
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 10:40 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Publications for DHH were set to 25927242; 23786321; 21816240
DHH was added to Disorders of sex developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Phenotypes for gene DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080; 46XY sex reversal 7, 233420
DHH was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Other
DHHAll sources for gene: DHH were removed
DHH was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
DHH was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
DHH was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
DHH was created by ellenmcdonagh