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Digenic inheritance

MedGen UID:
869192
•Concept ID:
C4023614
•
Genetic Function
HPO: HP:0010984

Definition

A type of multifactorial inheritance governed by the simultaneous action of two gene loci. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDigenic inheritance

Professional guidelines

PubMed

The utility of hierarchical genetic testing in paediatric liver disease.
Wang F, Li Y, Zhao S, Chen Z, Xu Z, Wang L, Zhang TJ, Yan J, Cao L, Wang P, Li A, Zhong Y, Wu Z, Qi X, Zhang M, Wu N
Liver Int 2022 May;42(5):1097-1108. Epub 2022 Mar 21 doi: 10.1111/liv.15235. PMID: 35257483
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Schnappauf O, Aksentijevich I
Rheumatology (Oxford) 2019 Nov 1;58(Suppl 6):vi44-vi55. doi: 10.1093/rheumatology/kez294. PMID: 31769854Free PMC Article

Recent systematic reviews

A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases.
Roman-Naranjo P, Parra-Perez AM, Lopez-Escamez JA
J Biomed Inform 2023 Jul;143:104429. Epub 2023 Jun 22 doi: 10.1016/j.jbi.2023.104429. PMID: 37352901

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