Hereditary neuropathy
Gene: DHHEnsemblGeneIds (GRCh38): ENSG00000139549
EnsemblGeneIds (GRCh37): ENSG00000139549
OMIM: 605423, Gene2Phenotype
DHH is in 4 panels
5 reviews
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)
Gonadal dysgenesis with mini fascicular neuropathyCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Gonadal dysgenesis with mini fascicular neuropathyCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- UKGTN
- OMIM
- 605423
- Clinvar variants
- Variants in DHH
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DHH.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to DHH.
Added New Source
Ellen McDonagh (Genomics England Curator)DHH was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN