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  3. HOXD13
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Non-Fanconi anaemia

Gene: HOXD13

Amber List (moderate evidence)
HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 7 panels

1 review

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Triplet repeat disorder - Polyalanine expansion - not loss of function.
Other known mutations in this gene suggest LOF
Created: 16 Oct 2015, 12:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Created: 16 Oct 2015, 12:55 p.m.

Panel version: 0

Details

Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Synpolydactyly, type II, 186000
Tags
nucleotide-repeat-expansion
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXD13 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXD13 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXD13 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXD13 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory