ZMYM2 zinc finger MYM-type containing 2

Gene info

Synonyms

RAMP, FIM, MYM

Previous symbol

ZNF198

External ID

HGNC: 12989
Entrez Gene: 7750
Ensembl: ENSG00000121741
UCSC: uc031zxu.1
OMIM: 602221
UniProtKB: Q9UBW7

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Bicuspid aortic valve

Extra Cardiac Phenotype

hypotonia, speech delay, global developmental disorder, Intellectual diability, microcephaly, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for an ENU-induced mutation exhibit prenatal lethality

MGI ID

1923257

Variant info

Clinvar

ZMYM2

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 ZMYM2.

Selected References

  1. Connaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Blok, L. S., Vino, A., Klämbt, V., Deutsch, K., Wu, C.-H. W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., … Hildebrandt, F. (2020). Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. The American Journal of Human Genetics, 107(4), 727–742. https://doi.org/10.1016/j.ajhg.2020.08.013 DOI:10.1016/j.ajhg.2020.08.013 PMID:32891193