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| Early onset or syndromic epilepsy v1.191 | NTRK2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | NTRK2 | Rebecca Foulger Source NHS GMS was added to NTRK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | NTRK2 | Rebecca Foulger edited their review of gene: NTRK2: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | NTRK2 | Tracy Lester reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 617830, Obesity, hyperphagia, and developmental delay 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Marked gene: NTRK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Classified gene: NTRK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Added and reviewed Green by Konstantinos Varvagiannis. Although probable rating in DD-G2P for 'Epilepsy and ID', there are sufficient unrelated cases (>3) of patients with NTRK2 variants and seizures from PMID:29100083 and PMID:15494731 (2 variants) for both EE and obesity/hyperphagia phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1522 | NTRK2 | Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1521 | NTRK2 | Rebecca Foulger commented on gene: NTRK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1488 | NTRK2 |
Konstantinos Varvagiannis gene: NTRK2 was added gene: NTRK2 was added to Genetic epilepsy syndromes. 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 29100083; 15494731 Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886) Penetrance for gene: NTRK2 were set to unknown Review for gene: NTRK2 was set to GREEN Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886). Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile)]. Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083). NTRK2 is a probable DD gene in G2P associated with epilepsy and ID. As a result, this gene can be considered for inclusion in this panel as green. Sources: Literature |
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