SMPD4 sphingomyelin phosphodiesterase 4

Gene info

Synonyms

FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13

Previous symbol

None

External ID

HGNC: 32949
Entrez Gene: 55627
Ensembl: ENSG00000136699
UCSC: uc002tqq.3
OMIM: 610457
UniProtKB: Q9NXE4

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Transposition of the great arteries
  • Patent foramen ovale

Extra Cardiac Phenotype

Severe neurodevelopmental disorder

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1924876

Variant info

Clinvar

SMPD4

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 SMPD4.

Selected References

None