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Severe early-onset obesity v2.23 MYT1L Ivone Leong Added comment: Comment on 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.
Severe early-onset obesity v2.23 MYT1L Ivone Leong Publications for gene: MYT1L were set to 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.
Severe early-onset obesity v2.22 MYT1L Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v1.22 MYT1L Ismaa Farooqi reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.21 MYT1L Ivone Leong Source Expert list was added to MYT1L.
Added phenotypes Mental retardation, autosomal dominant 39, 616521 for gene: MYT1L
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as Green List (high evidence)
Severe early-onset obesity MYT1L Ellen McDonagh commented on gene: MYT1L
Severe early-onset obesity MYT1L alisdair mcneill commented on MYT1L
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber
Severe early-onset obesity MYT1L Ellen McDonagh commented on MYT1L
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber