Severe early-onset obesity

Gene: NTRK2

Green List (high evidence)

NTRK2 (neurotrophic receptor tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000148053
EnsemblGeneIds (GRCh37): ENSG00000148053
OMIM: 600456, Gene2Phenotype
NTRK2 is in 9 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 obesity
Created: 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

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Currently not enough evidence after literature search (see notes under publications).
Created: 19 Oct 2016, 7:44 a.m.

Ayesha Ahmed (GEL)

Comment on list classification: 1 family + unclear missence mutation await further evidence
Created: 7 Jul 2016, 7:19 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886
OMIM
600456
Clinvar variants
Variants in NTRK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

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

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886

15 Aug 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set publications, Status Update

Ivone Leong (Genomics England Curator)

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, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

19 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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;

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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"

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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.

7 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Red List (Low Evidence).

7 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Red List (Low Evidence).

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NTRK2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NTRK2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen