SPEN spen family transcriptional repressor

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 17575
Entrez Gene: 23013
Ensembl: ENSG00000065526
UCSC: uc001axk.2
OMIM: 613484
UniProtKB: Q96T58

Disease info

Disease

None

CHD Phenotype

  • Ventricular septal defect
  • Patent foramen ovale
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Developmental delay, intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, high/narrow palate, facial dysmorphisms, and obesity/increased BMI

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1891706

Variant info

Clinvar

SPEN

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. Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernández-García, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., McConkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., McWalter, K., Desai, M., … Tartaglia, M. (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. The American Journal of Human Genetics, 108(3), 502–516. https://doi.org/10.1016/j.ajhg.2021.01.015 DOI:10.1016/j.ajhg.2021.01.015 PMID:33596411