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Fetal anomalies

Gene: NTRK2

Red List (low evidence)

NTRK2 (neurotrophic receptor tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000148053
EnsemblGeneIds (GRCh37): ENSG00000148053
OMIM: 600456, Gene2Phenotype
NTRK2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation for both disorders is typically post-natal.

Sources: Expert list
Created: 3 Jan 2020, 1:49 a.m. | Last Modified: 31 Jan 2022, 4:51 a.m.
Panel Version: 0.2957

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Obesity, hyperphagia, and developmental delay, MIM# 613886; Developmental and epileptic encephalopathy 58, MIM# 617830

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Obesity, hyperphagia, and developmental delay, MIM# 613886
  • Developmental and epileptic encephalopathy 58, MIM# 617830
OMIM
600456
Clinvar variants
Variants in NTRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntrk2 has been classified as Red List (Low Evidence).

31 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NTRK2 were changed from Epilepsy and intellectual disability to Obesity, hyperphagia, and developmental delay, MIM# 613886; Developmental and epileptic encephalopathy 58, MIM# 617830

31 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NTRK2 were set to

31 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NTRK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntrk2 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NTRK2 was added gene: NTRK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability