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Mendeliome

Gene: HOXD10

Red List (low evidence)

HOXD10 (homeobox D10)
EnsemblGeneIds (GRCh38): ENSG00000128710
EnsemblGeneIds (GRCh37): ENSG00000128710
OMIM: 142984, Gene2Phenotype
HOXD10 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Limited evidence, not replicated over time.
Created: 6 Jul 2020, 4:57 a.m. | Last Modified: 6 Jul 2020, 4:57 a.m.
Panel Version: 0.3238

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

A single variant (M319K; not present in gnomAD) reported in an Italian and English family with isolated Congenital Vertical Talus and Charcot-Marie-Tooth Disease in 2004 and 2006. No other recent publications supporting gene disease association. No functional studies performed. Amber/Red.
Created: 6 Jul 2020, 4:52 a.m. | Last Modified: 6 Jul 2020, 4:52 a.m.
Panel Version: 0.3234

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot-Marie-Tooth disease, foot deformity of; Vertical talus, congenital (MIM#192950)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, foot deformity of
  • Vertical talus, congenital (MIM#192950)
OMIM
142984
Clinvar variants
Variants in HOXD10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd10 has been classified as Red List (Low Evidence).

6 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXD10 were changed from to Charcot-Marie-Tooth disease, foot deformity of; Vertical talus, congenital (MIM#192950)

6 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXD10 were set to

6 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXD10 was added gene: HOXD10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXD10 was set to Unknown