Severe early-onset obesity
Gene: NTRK2
Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesityCreated: 16 Mar 2021, 4:56 p.m. | Last Modified: 16 Mar 2021, 4:56 p.m.
Panel Version: 2.25
NTRK2 is associated with a phenotype on OMIM but not on Gene2Phenotype. There are now 2 additional cases (PMID: 27884935; 29100083). Therefore, there is now enough evidence to promote this gene to green status.Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Currently not enough evidence after literature search (see notes under publications).Created: 19 Oct 2016, 7:44 a.m.
Comment on list classification: 1 family + unclear missence mutation await further evidenceCreated: 7 Jul 2016, 7:19 a.m.
Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
Source Expert Review Green was added to NTRK2. Source Expert list was added to NTRK2. Mode of inheritance for gene NTRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene NTRK2 were changed from 26727462 association with physical activity score; 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"; 24950379 GWAS found signals close to this gene associated with birth weight; 16702999 functional studies; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity Rating Changed from Red List (low evidence) to Green List (high evidence)
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
This gene has been classified as Red List (Low Evidence).
Publications for NTRK2 were set to 26727462 association with physical activity score; 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"; 24950379 GWAS found signals close to this gene associated with birth weight; 16702999 functional studies; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Publications for NTRK2 were set to 26727462 association with physical activity score; 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"; 24950379 GWAS found signals close to this gene associated with birth weight;
Publications for NTRK2 were set to 26727462 (association with physical activity score); 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"
Publications for NTRK2 were set to 26727462 (association with physical activity score);26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
NTRK2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
NTRK2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen