NTRK1

neurotrophic receptor tyrosine kinase 1
OMIM: 191315, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NTRK1 in Familial dysautonomia Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Insensitivity to pain, congenital, with anhidrosis 256800
Red NTRK1 in Multiple endocrine tumours Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240
Red NTRK1 in Autism Version 0.20	review	Not set	Sources Expert Review Red SFARI
Green NTRK1 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hereditary sensory neuropathy type IV HSAN 4 Insensitivity to pain, congenital, with anhidrosis, 256800
Red NTRK1 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes HSAN 4 Hereditary sensory neuropathy type IV Insensitivity to pain, congenital, with anhidrosis, 256800
Red NTRK1 in Fetal anomalies Version 1.179 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Green NTRK1 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800
Green NTRK1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Phenotypes Hereditary Neuropathies Insensitivity to pain, congenital, with anhidrosis
Green NTRK1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800
Green NTRK1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Hereditary Neuropathies Insensitivity to pain, congenital, with anhidrosis
Green NTRK1 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240