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 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 unrelated individuals with this phenotype.

NOTE: p.(Tyr434Cys) is a recurrent variant for Developmental and epileptic encephalopathy 58 (MIM#617830)
Created: 1 Nov 2021, 12:12 a.m. | Last Modified: 1 Nov 2021, 12:12 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Obesity, hyperphagia, and developmental delay MIM#613886

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886
OMIM
600456
Clinvar variants
Variants in NTRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntrk2 has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NTRK2 was added gene: NTRK2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTRK2 were set to 27884935; 29100083; 24950379; 16702999; 26629410; 26727462; 15494731 Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886