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Unknown inheritance

MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Synonym: unknown inheritance
 
Orphanet: ORPHA409939

Definition

Hereditary clinical entity whose mode of inheritance is unknown. [from ORDO]

Professional guidelines

PubMed

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081275. PMID: 34440449Free PMC Article
Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling.
Szczałuba K, Jakubiuk-Tomaszuk A, Kędzior M, Bernaciak J, Zdrodowska J, Kurzątkowski W, Radkowski M, Demkow U
Adv Exp Med Biol 2016;912:11-9. doi: 10.1007/5584_2016_234. PMID: 26987321

Recent clinical studies

Etiology

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basúz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA
Am J Hum Genet 2025 Mar 6;112(3):537-553. Epub 2025 Jan 28 doi: 10.1016/j.ajhg.2025.01.001. PMID: 39879987
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK, Calamia S, Geltzeiler A, Chung WK
Am J Med Genet A 2024 Mar;194(3):e63471. Epub 2023 Nov 13 doi: 10.1002/ajmg.a.63471. PMID: 37961033
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
Ramírez N, Vilella FE, Colón M, Flynn JM
J Pediatr Orthop B 2003 Mar;12(2):88-96. doi: 10.1097/01.bpb.0000043724.21564.32. PMID: 12584490
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease.
Schellenberg GD, Bird TD, Wijsman EM, Moore DK, Boehnke M, Bryant EM, Lampe TH, Nochlin D, Sumi SM, Deeb SS
Science 1988 Sep 16;241(4872):1507-10. doi: 10.1126/science.3420406. PMID: 3420406

Diagnosis

Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, Marvig RL, Katzenstein TL, Masmas TN, Lundgren J, Murray DD, Helleberg M, Borgwardt L
Front Immunol 2022;13:906328. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.906328. PMID: 35874679Free PMC Article
Case series: Megalopapillae in twins - Congenital or hereditary?
Sharma S, Singh K, Kaur PP
Indian J Ophthalmol 2022 Jul;70(7):2610-2611. doi: 10.4103/ijo.IJO_2480_21. PMID: 35791169Free PMC Article
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A
Epilepsy Res 2021 Oct;176:106699. Epub 2021 Jun 23 doi: 10.1016/j.eplepsyres.2021.106699. PMID: 34229227
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P
Genet Med 2019 Mar;21(3):663-675. Epub 2018 Aug 30 doi: 10.1038/s41436-018-0085-6. PMID: 30158690Free PMC Article
Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
Ramírez N, Vilella FE, Colón M, Flynn JM
J Pediatr Orthop B 2003 Mar;12(2):88-96. doi: 10.1097/01.bpb.0000043724.21564.32. PMID: 12584490

Therapy

Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells.
Carlsson G, Aprikyan AA, Tehranchi R, Dale DC, Porwit A, Hellström-Lindberg E, Palmblad J, Henter JI, Fadeel B
Blood 2004 May 1;103(9):3355-61. Epub 2004 Feb 5 doi: 10.1182/blood-2003-04-1011. PMID: 14764541
Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
Ramírez N, Vilella FE, Colón M, Flynn JM
J Pediatr Orthop B 2003 Mar;12(2):88-96. doi: 10.1097/01.bpb.0000043724.21564.32. PMID: 12584490

Prognosis

Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
Arif AR, Zhou H, Fang Y, Cheng Y, Ye J, Chen W, Ding Y, Cai L, Xue M, Mei H, Wang Y
J Thromb Haemost 2025 Mar;23(3):1043-1051. Epub 2024 Dec 12 doi: 10.1016/j.jtha.2024.12.001. PMID: 39672236
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK, Calamia S, Geltzeiler A, Chung WK
Am J Med Genet A 2024 Mar;194(3):e63471. Epub 2023 Nov 13 doi: 10.1002/ajmg.a.63471. PMID: 37961033
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu AY, Hudson M, Mcaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES
Clin Genet 2019 Sep;96(3):199-206. Epub 2019 May 30 doi: 10.1111/cge.13556. PMID: 31038196
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ
Eye (Lond) 2013 Oct;27(10):1204-13. Epub 2013 Jul 26 doi: 10.1038/eye.2013.137. PMID: 23887765Free PMC Article
Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature.
Ramírez N, Vilella FE, Colón M, Flynn JM
J Pediatr Orthop B 2003 Mar;12(2):88-96. doi: 10.1097/01.bpb.0000043724.21564.32. PMID: 12584490

Clinical prediction guides

Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
Arif AR, Zhou H, Fang Y, Cheng Y, Ye J, Chen W, Ding Y, Cai L, Xue M, Mei H, Wang Y
J Thromb Haemost 2025 Mar;23(3):1043-1051. Epub 2024 Dec 12 doi: 10.1016/j.jtha.2024.12.001. PMID: 39672236
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D
J Med Genet 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. PMID: 37879892
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu AY, Hudson M, Mcaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES
Clin Genet 2019 Sep;96(3):199-206. Epub 2019 May 30 doi: 10.1111/cge.13556. PMID: 31038196
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH
Am J Hum Genet 2016 Sep 1;99(3):540-554. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.036. PMID: 27569545Free PMC Article

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