SMO smoothened, frizzled class receptor

Gene info

Synonyms

FZD11

Previous symbol

SMOH

External ID

HGNC: 11119
Entrez Gene: 6608
Ensembl: ENSG00000128602
UCSC: uc003vor.4
OMIM: 601500
UniProtKB: Q99835

Disease info

Disease

None

CHD Phenotype

  • Atrioventricular septal defect

Extra Cardiac Phenotype

Microcephaly,polydactyly, aganglionosis

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null allele have CHD

MGI ID

108075

Variant info

Clinvar

SMO

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 SMO.

Selected References

  1. Le, T.-L., Sribudiani, Y., Dong, X., Huber, C., Kois, C., Baujat, G., Gordon, C. T., Mayne, V., Galmiche, L., Serre, V., Goudin, N., Zarhrate, M., Bole-Feysot, C., Masson, C., Nitschké, P., Verheijen, F. W., Pais, L., Pelet, A., Sadedin, S., … Thomas, S. (2020). Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. The American Journal of Human Genetics, 106(6), 779–792. https://doi.org/10.1016/j.ajhg.2020.04.010 DOI:10.1016/j.ajhg.2020.04.010 PMID:32413283