Hereditary neuropathy or pain disorder
Gene: DHHEnsemblGeneIds (GRCh38): ENSG00000139549
EnsemblGeneIds (GRCh37): ENSG00000139549
OMIM: 605423, Gene2Phenotype
DHH is in 4 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
DHH variants have been associated with 46XY gonadal dysgenesis with minifascicular neuropathy (OMIM:607080). At least five DHH variants have been associated with in five unrelated cases of OMIM:607080.Created: 4 Nov 2024, 1:20 p.m. | Last Modified: 4 Nov 2024, 1:20 p.m.
Panel Version: 6.48
Comment on phenotypes: DHH variants are also associated with 46XY sex reversal 7 (OMIM:233420). Neuropathy does not appear to be associated with this condition.Created: 4 Nov 2024, 1:15 p.m. | Last Modified: 4 Nov 2024, 1:15 p.m.
Panel Version: 6.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Multipel reports of this syndrome causing peripheral neuropathy. Should be added to panelCreated: 15 Oct 2024, 10:39 p.m. | Last Modified: 15 Oct 2024, 10:39 p.m.
Panel Version: 5.19
Gonadal dysgenesis with mini fascicular neuropathyCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gonadal dysgenesis; peripheral neuropathy
Publications
Mary Reilly (Institute of Neurology)
Gonadal dysgenesis with mini fascicular neuropathyCreated: 8 Dec 2015, 3:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- UKGTN
- NHS GMS
- NHS GMS
- South West GLH
- Phenotypes
-
- 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
- OMIM
- 605423
- Clinvar variants
- Variants in DHH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: DHH. Tag Q3_24_NHS_review was removed from gene: DHH.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to DHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dhh has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: DHH. Tag Q3_24_NHS_review tag was added to gene: DHH.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DHH were changed from to 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DHH were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: DHH was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: DHH was added gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH Mode of inheritance for gene: DHH was set to