IGF2 insulin like growth factor 2

Gene info

Synonyms

somatomedin A|preptin

Previous symbol

C11orf43

External ID

HGNC: 5466
Entrez Gene: 3481
Ensembl: ENSG00000167244
UCSC: uc001lvg.4
OMIM: 147470
UniProtKB: P01344

Disease info

Disease

None

CHD Phenotype

  • Ventricular septal defect

Extra Cardiac Phenotype

Triangular face, prominent forehead, and low-set ears, limb defects, genitourinary anomalies, hearing impairment, developmental delay

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Heterozygous knockout mice have CHD

MGI ID

96434

Variant info

Clinvar

IGF2

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

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Selected References

  1. https://panelapp.agha.umccr.org/panels/76/gene/IGF2/