KIF1B

kinesin family member 1B
OMIM: 605995, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red KIF1B in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.6

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 1.383

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 Hereditary neuropathy NOT PMP22 copy number


Version 1.21
Signed off v.1.2 on 27 Feb 2020

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