THOC6 THO complex 6

Gene info

Synonyms

MGC2655, fSAP35

Previous symbol

WDR58

External ID

HGNC: 28369
Entrez Gene: 79228
Ensembl: ENSG00000131652
UCSC: uc002ctb.3
OMIM: 615403
UniProtKB: Q86W42

Disease info

Disease

None

CHD Phenotype

  • Patent ductus arteriosus
  • Atrial septal defect
  • Ventricular septal defect

Extra Cardiac Phenotype

Delayed development, moderate to severe intellectual disability, dysmorphic facial features, renal defects, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

2677480

Variant info

Clinvar

THOC6

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

Download annotation file for THOC6: BED file

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Selected References

  1. Ruaud, L., Roux, N., Boutaud, L., Bessières, B., Ageorges, F., Achaiaa, A., Bole, C., Nitschke, P., Masson, C., Vekemans, M., Verloes, A., & Attie‐Bitach, T. (2022). Biallelic <scp> THOC6 </scp> pathogenic variants: Prenatal phenotype and review of the literature. Birth Defects Research, 114(10), 499–504. Portico. https://doi.org/10.1002/bdr2.2011 DOI:10.1002/bdr2.2011 PMID:35426486