Gene / Corroborating Evidence Reference(s)
Candidate
ACTG23 / Wangler MF (2014), Thorson W (2014), Tuzovic L (2015), Klar J (2015)1-4
CDC42 / Takenouchi T (2015)5
COQ4 / Brea-Calvo (2015), Chung WK (2015)6,7
DNM1 / DDD Study (2014), EuroEPINOMICS-RES Consortium (2014), Nakashima (2015)8-10
ETV6 / Moriyama (2015), Noetzli (2015), Topka (2015), Zhang (2015)11-14
HNRNPK1 / Au (2015)15
ITSN1 / Fukai (2014)16
KCNA22 / Pena (2015), Lal (2015), Syrbe (2015)17-19
LAS1L4 / Butterfield (2014)20
MYH103 / Hamdan (2014)21
PURA / Brown (2013), Hunt (2014), Lalani (2014)22-24
RAD54L2 / Li (2013)25
SETD52 / Pinto (2014), Uddin (2014), Grozeva (2014), Iossifov (2014), Kobayashi (2015), Kuechler (2015), Grozeva (2015)26-32
SNAP253 / (Shen (2014)33
SON1 / Gilissen (2014), Zhu (2015)34,35
ZBTB20 / Shuvarikov (2013), Vuillaume (2013), Cordeddu (2014), Karavitakis (2014), Rasmussen (2014)36-40
ZBTB18 / Rauch (2012), Perlman (2013), de Munnik (2014)41-43
Suspected Candidate
ABCA5 / DeStefano GM (2014)44
DLL4 / Meester (2015)45
DNMT3A / Tatton-Brown (2014)46
EMILIN14 / Capuano (2015)47
IL21R / Kotlarz (2013), Stepensky (2015), Erman (2015)48,49 50
LRFN2 / Thevenon (2015)51
MTOR3 / Baynam (2015), D'Gama (2015), Soden (2014), Mroske (2015)52-55
RYR32 / EuroEPINOMICS-RES Consortium (2014)9
SLIT2 / Hwang (2015)56
1Gene reported as a candidate in the first patient in whom it was identified and as a suspected candidate evidence in the second patient in whom it was identified.
2Reported phenotype affecting same organ system as Ambry patient: Drogemoller (2015), Lal (2015), Syrbe (2015), Li (2013), Kobayashi (2015), and EuroEPINOMICS-RES Consortium (2014).
3Ambry patient included in report: Tuzovic (2015), Mroske (2015).
4Publication describes Ambry patient along with corroborating functional data: Butterfield (2014), Capuano (2015).
1
REFERENCES
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2. Tuzovic L, Tang S, Miller RS, et al. New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding gamma-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). Fetal diagnosis and therapy. May 13 2015.
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25. Li WQ, Hu N, Hyland PL, et al. Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population. Carcinogenesis. Jul 2013;34(7):1536-1542.
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30. Pinto D, Delaby E, Merico D, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American journal of human genetics. May 1 2014;94(5):677-694.
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32. Kobayashi Y, Tohyama J, Kato M, et al. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. Brain & development. Oct 16 2015.
33. Shen XM, Selcen D, Brengman J, Engel AG. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. Dec 9 2014;83(24):2247-2255.
34. Zhu X, Petrovski S, Xie P, et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genetics in medicine : official journal of the American College of Medical Genetics. Oct 2015;17(10):774-781.
35. Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. Jul 17 2014;511(7509):344-347.
36. Cordeddu V, Redeker B, Stellacci E, et al. Mutations in ZBTB20 cause Primrose syndrome. Nature genetics. Aug 2014;46(8):815-817.
37. Rasmussen MB, Nielsen JV, Lourenco CM, et al. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes. Journal of medical genetics. Sep 2014;51(9):605-613.
38. Shuvarikov A, Campbell IM, Dittwald P, et al. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Human mutation. Oct 2013;34(10):1415-1423.
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44. DeStefano GM, Kurban M, Anyane-Yeboa K, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS genetics. 2014;10(5):e1004333.
45. Meester JA, Southgate L, Stittrich AB, et al. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. American journal of human genetics. Sep 3 2015;97(3):475-482.
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47. Capuano A, Bucciotti F, Farwell KD, et al. Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal dominant hereditary connective tissue disease. Human mutation. Oct 14 2015.
48. Kotlarz D, Zietara N, Uzel G, et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. The Journal of experimental medicine. Mar 11 2013;210(3):433-443.
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56. Hwang DY, Kohl S, Fan X, et al. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Human genetics. Aug 2015;134(8):905-916.
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