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Mendelian inheritance

MedGen UID:
1813117
•Concept ID:
C0683231
•
Genetic Function
HPO: HP:0034345

Definition

A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. [from HPO]

Professional guidelines

PubMed

Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.
Thomas CP, Daloul R, Lentine KL, Gohh R, Anand PM, Rasouly HM, Sharfuddin AA, Schlondorff JS, Rodig NM, Freese ME, Garg N, Lee BK, Caliskan Y
Am J Transplant 2023 May;23(5):597-607. Epub 2023 Mar 1 doi: 10.1016/j.ajt.2023.02.020. PMID: 36868514
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Melanoma susceptibility genes and risk assessment.
Marzuka-Alcalá A, Gabree MJ, Tsao H
Methods Mol Biol 2014;1102:381-93. doi: 10.1007/978-1-62703-727-3_20. PMID: 24258989

Recent systematic reviews

Medicine for chronic atrophic gastritis: a systematic review, meta- and network pharmacology analysis.
Weng J, Wu XF, Shao P, Liu XP, Wang CX
Ann Med 2023;55(2):2299352. Epub 2024 Jan 3 doi: 10.1080/07853890.2023.2299352. PMID: 38170849Free PMC Article
EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.
Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA
Epileptic Disord 2019 Feb 1;21(1):30-41. doi: 10.1684/epd.2019.1024. PMID: 30767897
A stroke gene panel for whole-exome sequencing.
Ilinca A, Samuelsson S, Piccinelli P, Soller M, Kristoffersson U, Lindgren AG
Eur J Hum Genet 2019 Feb;27(2):317-324. Epub 2018 Oct 24 doi: 10.1038/s41431-018-0274-4. PMID: 30356112Free PMC Article
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW, Vekic DA, Woods J, Cains GD
Br J Dermatol 2017 Oct;177(4):987-998. Epub 2017 Sep 20 doi: 10.1111/bjd.15441. PMID: 28278367
Hereditary renal cancer syndromes: an update of a systematic review.
Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, Mongiat-Artus P
Eur Urol 2010 Nov;58(5):701-10. Epub 2010 Aug 27 doi: 10.1016/j.eururo.2010.08.031. PMID: 20817385

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