FRYL FRY like transcription coactivator

Gene info

Synonyms

mor2 cell polarity protein homolog (S. pombe)

Previous symbol

KIAA0826

External ID

HGNC: 29127
Entrez Gene: 285527
Ensembl: ENSG00000075539
UCSC: uc003gyh.1
OMIM: 620798
UniProtKB: O94915

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Tetralogy of fallot
  • Pulmonary atresia
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Developmental delay, intellectual disability, facial dysmorphic features, neurobehavioral differences, autism spectrum disorder, hypotonia, and seizures, congenital anomalies skeletal, gastrointestinal, renal, and urogenital systems

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1919563

Variant info

Clinvar

FRYL

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/FRYL/