KIF1B

kinesin family member 1B
OMIM: 605995, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red KIF1B in Inherited phaeochromocytoma and paraganglioma Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.11	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth disease, type 2A1, 118210Pheochromocytoma, 171300{Neuroblastoma, susceptibility to, 1}, 256700
Red KIF1B in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS South West GLH Expert Review Red Emory Genetics Laboratory UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot Marie Tooth disease, type 2A1, 118210
Red KIF1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia coloboma, MONDO:0001476 hypoplasia of the corpus callosum severe neurodevelopmental delay
Red KIF1B in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Red UKGTN Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services NHS GMS NHS GMS South West GLH Phenotypes Charcot Marie Tooth disease, type 2A1, 118210