Severe early-onset obesity
Gene: NTRK2EnsemblGeneIds (GRCh38): ENSG00000148053
EnsemblGeneIds (GRCh37): ENSG00000148053
OMIM: 600456, Gene2Phenotype
NTRK2 is in 5 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ntrk2 has been classified as Green List (High Evidence).
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