{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA1106","NZF1","ZC2HC4B","ZC2H2C2"],"biotype":"protein_coding","hgnc_id":"HGNC:7623","gene_name":"myelin transcription factor 1 like","omim_gene":["613084"],"alias_name":["neural zinc finger transcription factor 1"],"gene_symbol":"MYT1L","hgnc_symbol":"MYT1L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:1792885-2335032","ensembl_id":"ENSG00000186487"}},"GRch38":{"90":{"location":"2:1789113-2331260","ensembl_id":"ENSG00000186487"}}},"hgnc_date_symbol_changed":"1996-07-11"},"entity_type":"gene","entity_name":"MYT1L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26240977 - patient with normal weight at 4.5 years of age","25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”","25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN)","24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity","21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L."],"evidence":["Expert list","Expert Review Green","Literature"],"phenotypes":["obesity","Mental retardation, autosomal dominant 39, 616521","intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":"55d2fc2d22c1fc2cc6635960","name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"Obesity syndromes","status":"public","version":"2.0","version_created":"2019-09-23T12:02:23.516332Z","relevant_disorders":["Significant early-onset obesity with or without other endocrine features and short stature","Significant early-onset obesity +/- other endocrine features and short stature","R149"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 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for research."}]}},{"gene_data":{"alias":["KIAA1106","NZF1","ZC2HC4B","ZC2H2C2"],"biotype":"protein_coding","hgnc_id":"HGNC:7623","gene_name":"myelin transcription factor 1 like","omim_gene":["613084"],"alias_name":["neural zinc finger transcription factor 1"],"gene_symbol":"MYT1L","hgnc_symbol":"MYT1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1792885-2335032","ensembl_id":"ENSG00000186487"}},"GRch38":{"90":{"location":"2:1789113-2331260","ensembl_id":"ENSG00000186487"}}},"hgnc_date_symbol_changed":"1996-07-11"},"entity_type":"gene","entity_name":"MYT1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["MYT1L syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal 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