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Hereditary neuropathy NOT PMP22 copy number

Gene: HOXD10

Red List (low evidence)

HOXD10 (homeobox D10)
EnsemblGeneIds (GRCh38): ENSG00000128710
EnsemblGeneIds (GRCh37): ENSG00000128710
OMIM: 142984, Gene2Phenotype
HOXD10 is in 3 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Red List (low evidence)

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)

I don't know

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 CMT
Created: 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 CMT
Created: 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
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, foot deformity of, 192950
OMIM
142984
Clinvar variants
Variants in HOXD10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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