DOHH deoxyhypusine hydroxylase

Gene info

Synonyms

None

Previous symbol

HLRC1

External ID

HGNC: 28662
Entrez Gene: 83475
Ensembl: ENSG00000129932
UCSC: uc010xhl.3
OMIM: 611262
UniProtKB: Q9BU89

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonary valve stenosis
  • Coarctation of the aorta

Extra Cardiac Phenotype

Developmental delay and/or intellectual disability, microcephaly, visual impairment

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null mutation die prior to organogenesis

MGI ID

1915964

Variant info

Clinvar

DOHH

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp.agha.umccr.org/panels/76/gene/DOHH/