Hereditary neuropathy or pain disorder
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
gene: HOXD10 was added gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD10 were set to 15146389 Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950