AMOTL1 angiomotin like 1

Gene info

Synonyms

junction-enriched and associated protein

Previous symbol

None

External ID

HGNC: 17811
Entrez Gene: 154810
Ensembl: ENSG00000166025
UCSC: uc001pfb.4
OMIM: 614657
UniProtKB: Q8IY63

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Pulmonic stenosis
  • Tetralogy of fallot

Extra Cardiac Phenotype

Orofacial clefting

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1922973

Variant info

Clinvar

AMOTL1

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp-aus.org/panels/76/gene/AMOTL1/