Hereditary neuropathy
Gene: HOXD10EnsemblGeneIds (GRCh38): ENSG00000128710
EnsemblGeneIds (GRCh37): ENSG00000128710
OMIM: 142984, Gene2Phenotype
HOXD10 is in 3 panels
6 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)
Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. PMID: 15146389 - only paper. Predominant phenotype in family is congenital vertical talus (only 2 have CMT)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, foot deformity of, 192950
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from green to red due to reviews and comments.Created: 3 May 2016, 4:15 p.m.
Alexander Rossor (UCL Institute of Neurology)
Foot deformity, not CMTCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mary Reilly (Institute of Neurology)
Foot deformity, not CMTCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Charcot Marie Tooth disease, foot deformity of, 192950
- Charcot Marie Tooth disease, foot deformity of, 192950
- OMIM
- 142984
- Clinvar variants
- Variants in HOXD10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Charcot Marie Tooth disease, foot deformity of, 192950 for gene: HOXD10 Publications for gene HOXD10 were changed from to 15146389
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HOXD10.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HOXD10.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory