Hereditary neuropathy
Gene: HOXD10
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.
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
Comment on list classification: Demoted from green to red due to reviews and comments.Created: 3 May 2016, 4:15 p.m.
Foot deformity, not CMTCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Foot deformity, not CMTCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot Marie Tooth disease, foot deformity of, 192950 for gene: HOXD10 Publications for gene HOXD10 were changed from to 15146389
Source NHS GMS was added to HOXD10.
Source South West GLH was added to HOXD10.
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene HOXD10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
HOXD10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory