{"summary":"NR4A2-related developmental disorder has a confidence assertion of strong based on 0 curated publications. This is a monoallelic autosomal condition. Variant consequence is absent gene product (inferred). Molecular mechanism is loss of function.","locus":{"gene_symbol":"NR4A2","sequence":"2","start":156324437,"end":156342348,"strand":-1,"reference":"grch38","ids":{"HGNC":"HGNC:7981","Ensembl":"ENSG00000153234","OMIM":"601828"},"synonyms":["HZF-3","NOT","NURR1","RNR1","TINUR"]},"stable_id":"G2P02861","genotype":"monoallelic_autosomal","variant_consequence":[{"variant_consequence":"absent gene product","accession":"SO:0002317","support":"inferred","publication":null}],"molecular_mechanism":{"mechanism":"loss of function","mechanism_support":"inferred","synopsis":[],"evidence":{}},"disease":{"id":2483,"name":"NR4A2-related developmental disorder","ontology_terms":[{"accession":"MONDO:0700092","term":"neurodevelopmental disorder","description":"A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.","source":"Mondo"}],"synonyms":[]},"confidence":"strong","publications":[],"mined_publications":[{"pmid":41019763,"year":2025,"title":"Combined molecular characterization and dopa-responsive treatment in two patients with NR4A2-associated intellectual developmental disorder.","status":"mined","comment":null},{"pmid":40564942,"year":2025,"title":"Molecular Screening Reveals De Novo Loss-of-Function NR4A2 Variants in Saudi Children with Autism Spectrum Disorders: A Single-Center Study.","status":"mined","comment":null},{"pmid":40497586,"year":2025,"title":"Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.","status":"mined","comment":null},{"pmid":38791237,"year":2024,"title":"NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.","status":"mined","comment":null},{"pmid":35992907,"year":2022,"title":"Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.","status":"mined","comment":null},{"pmid":34155693,"year":2021,"title":"NR4A2 and Dystonia with Dopa Responsiveness.","status":"mined","comment":null},{"pmid":33585677,"year":2021,"title":"NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.","status":"mined","comment":null},{"pmid":32366965,"year":2020,"title":"De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.","status":"mined","comment":null},{"pmid":31922365,"year":2020,"title":"Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.","status":"mined","comment":null},{"pmid":31428396,"year":2019,"title":"Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.","status":"mined","comment":null},{"pmid":30504930,"year":2019,"title":"Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.","status":"mined","comment":null},{"pmid":29770430,"year":2018,"title":"NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.","status":"mined","comment":null},{"pmid":28544326,"year":2017,"title":"Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.","status":"mined","comment":null},{"pmid":27957763,"year":2017,"title":"Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient.","status":"mined","comment":null},{"pmid":19156171,"year":2009,"title":"An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.","status":"mined","comment":null},{"pmid":12953278,"year":2003,"title":"NR4A2 mutations are rare among European patients with familial Parkinson's disease.","status":"mined","comment":null},{"pmid":12496759,"year":2003,"title":"Mutations in NR4A2 associated with familial Parkinson disease.","status":"mined","comment":null},{"pmid":12420720,"year":2002,"title":"Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.","status":"mined","comment":null}],"panels":[{"name":"DD","description":"Developmental disorders"}],"cross_cutting_modifier":[],"variant_type":[],"variant_description":[],"phenotypes":[],"phenotype_summary":[],"last_updated":"2025-01-21","date_created":null,"comments":[],"under_review":false}