Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: NTRK2

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A heterozygous stop-gain variant was identified in an individual with unicoronal synostosis, language delay, hyperphagic obesity, and aggression (c.1330G>T; p.Gly444*). It was suspected that the variant arose de novo but the father’s sample was not available for testing (PMID:27884935).
Sources: Literature
Created: 23 Jul 2023, 4:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Obesity, hyperphagia, and developmental delay, OMIM:613886; craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 4:58 p.m.

Panel version: 4.144

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

Obesity, hyperphagia, and developmental delay, OMIM:613886
craniosynostosis, MONDO:0015469

OMIM

600456

Clinvar variants

Variants in NTRK2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NTRK2 was added gene: NTRK2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 27884935; 36980886 Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886; craniosynostosis, MONDO:0015469 Review for gene: NTRK2 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: NTRK2