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Severe Paediatric Disorders

Gene: HOXA13

Green List (high evidence)

HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HOXA13; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Guttmacher syndrome, 176305 (3) | Hand-foot-uterus syndrome, 140000 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hand-foot-uterus syndrome, 140000
  • ?Guttmacher syndrome, 176305
OMIM
142959
Clinvar variants
Variants in HOXA13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene HOXA13 was changed from to MONOALLELIC, autosom