ZMYND8 zinc finger MYND-type containing 8

Gene info

Synonyms

RACK7

Previous symbol

PRKCBP1

External ID

HGNC: 9397
Entrez Gene: 23613
Ensembl: ENSG00000101040
UCSC: uc061xnt.1
OMIM: 615713
UniProtKB: Q9ULU4

Disease info

Disease

None

CHD Phenotype

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

Extra Cardiac Phenotype

Delayed speech and language development, motor delay, intellectual disability

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1918025

Variant info

Clinvar

ZMYND8

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 ZMYND8.

Selected References

  1. Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., … Roscioli, T. (2022). De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine, 24(9), 1952–1966. https://doi.org/10.1016/j.gim.2022.06.001 DOI:10.1016/j.gim.2022.06.001 PMID:35916866