Kleine-Levin syndrome

Gene: NTRK2

Red List (low evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least one variant reported to be associated with hyperphagia, together with functional studies, but this phenotype is only one of the features of Kleine-Levin syndrome
Created: 5 Jan 2017, 11:01 a.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886
OMIM
600456
Clinvar variants
Variants in NTRK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

5 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NTRK2 were set to 15494731; 16702999

5 Jan 2017, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

NTRK2 was added to Kleine-Levin syndromepanel. Sources: Emory Genetics Laboratory

5 Jan 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene NTRK2 was set to Unknown

5 Jan 2017, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

NTRK2All sources for gene: NTRK2 were removed

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NTRK2 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen