ZNF699 zinc finger protein 699

Gene info

Synonyms

FLJ38144, hang

Previous symbol

None

External ID

HGNC: 24750
Entrez Gene: 374879
Ensembl: ENSG00000196110
UCSC: uc060syk.1
OMIM: 609571
UniProtKB: Q32M78

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy, sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No mouse models

MGI ID

Variant info

Clinvar

ZNF699

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

No variant passing our criteria was found for ZNF699.

Selected References

  1. Bertoli-Avella, A. M., Kandaswamy, K. K., Khan, S., Ordonez-Herrera, N., Tripolszki, K., Beetz, C., Rocha, M. E., Urzi, A., Hotakainen, R., Leubauer, A., Al-Ali, R., Karageorgou, V., Moldovan, O., Dias, P., Alhashem, A., Tabarki, B., Albalwi, M. A., Alswaid, A. F., Al-Hassnan, Z. N., … Bauer, P. (2021). Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders. Genetics in Medicine, 23(8), 1551–1568. https://doi.org/10.1038/s41436-021-01159-0 DOI:10.1038/s41436-021-01159-0 PMID:33875846