%0 Journal Article %T Operative list of genes associated with autism and neurodevelopmental disorders based on database review %+ Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)) %+ Hôpital Robert Debré %+ Service psychiatrique de l'enfant et de l'adolescent [CHU Hôpital Robert Debré] %A Leblond, Claire, S. %A Le, Thuy-Linh %A Malesys, Simon %A Cliquet, Freddy %A Tabet, Anne-Claude %A Delorme, Richard %A Rolland, Thomas %A Bourgeron, Thomas %Z This work was funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université de Paris, the Conny-Maeva Charitable Foundation, the Cognacq Jay Foundation, the Orange Foundation, the Fundamental Foundation, OdyseeRe, The Roger de Spoelberch Foundation, ERANET-Neuron (ALTRUISM), AIMS-2-TRIALS which received support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394, the Human Brain Project and the Inception program (Investissement d'Avenir grant ANR-16-CONV-0005). %< avec comité de lecture %@ 1044-7431 %J Molecular and Cellular Neuroscience %I Elsevier %V 113 %P 103623 %8 2021-04-29 %D 2021 %R 10.1016/j.mcn.2021.103623 %M 33932580 %K Autism %K Databases %K Fetal brain expression & synaptic function %K Genetic diagnostic %K High-confidence neurodevelopmental disorder genes %K Neurodevelopmental disorders %Z Life Sciences [q-bio]/Genetics/Human genetics %Z Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] %Z Computer Science [cs]/Bioinformatics [q-bio.QM]Journal articles %X The genetics of neurodevelopmental disorders (NDD) has made tremendous progress during the last few decades with the identification of more than 1,500 genes associated with conditions such as intellectual disability and autism. The functional roles of these genes are currently studied to uncover the biological mechanisms influencing the clinical outcome of the mutation carriers. To integrate the data, several databases and curated gene lists have been generated. Here, we provide an overview of the main databases focusing on the genetics of NDD, that are widely used by the medical and scientific communities, and extract a list of high confidence NDD genes (HC-NDD). This gene set can be used as a first filter for interpreting large scale omics dataset or for diagnostic purposes. Overall HC-NDD genes (N = 1,586) are expressed at very early stages of fetal brain development and enriched in several biological pathways such as chromosome organization, cell cycle, metabolism and synaptic function. Among those HC-NDD genes, 204 (12,9%) are listed in the synaptic gene ontology SynGO and are enriched in genes expressed after birth in the cerebellum and the cortex of the human brain. Finally, we point at several limitations regarding the relatively poor standardized information available, especially on the carriers of the mutations. Progress on the phenotypic characterization and genetic profiling of the carriers will be crucial to improve our knowledge on the biological mechanisms and on risk and protective factors for NDD. %G English %2 https://pasteur.hal.science/pasteur-03261328/document %2 https://pasteur.hal.science/pasteur-03261328/file/MCN_Revised_20210301.pdf %L pasteur-03261328 %U https://pasteur.hal.science/pasteur-03261328 %~ PASTEUR %~ CNRS %~ APHP %~ UNIV-PARIS %~ UNIVERSITE-PARIS %~ UP-SCIENCES %~ ANR %~ HUM-GEN-COGN-FUN %~ PASTEUR_UMR3571