TMEM94 transmembrane protein 94

Gene info

Synonyms

ER Mg2+ ATPase

Previous symbol

KIAA0195

External ID

HGNC: 28983
Entrez Gene: 9772
Ensembl: ENSG00000177728
OMIM: 618163
UniProtKB: Q12767

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Tetralogy of fallot

Extra Cardiac Phenotype

Intellectual disability, facial dysmorphism

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1919197

Variant info

Clinvar

TMEM94

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. Stephen, J., Maddirevula, S., Nampoothiri, S., Burke, J. D., Herzog, M., Shukla, A., Steindl, K., Eskin, A., Patil, S. J., Joset, P., Lee, H., Garrett, Lisa. J., Yokoyama, T., Balanda, N., Bodine, S. P., Tolman, N. J., Zerfas, P. M., Zheng, A., Ramantani, G., … Malicdan, M. C. V. (2018). Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. The American Journal of Human Genetics, 103(6), 948–967. https://doi.org/10.1016/j.ajhg.2018.11.001 DOI:10.1016/j.ajhg.2018.11.001 PMID:30526868