Gene Symbol:
KIF1B
HGNC:16636
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.22
Filters:

Ambry Genetics classifications

pheochromocytoma
Submitted as: OMIM:171300
AD
12/04/2019
Evaluated
12/24/2020
Submitted
Charcot-Marie-Tooth disease type 2A1
Submitted as: OMIM:118210
AD
09/02/2022
Evaluated
08/19/2023
Submitted
neuroblastoma, susceptibility to, 1
Submitted as: OMIM:256700
AD
07/31/2020
Evaluated
12/24/2020
Submitted

ClinGen classifications

Charcot-Marie-Tooth disease type 2A1
AD
10/05/2020
Evaluated
10/18/2023
Submitted

Invitae classifications

Charcot-Marie-Tooth disease type 2A1
Submitted as: OMIM:118210
AD
05/19/2017
Evaluated
11/30/2023
Submitted
pheochromocytoma
Submitted as: OMIM:171300
AD
09/15/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

hereditary pheochromocytoma-paraganglioma
Submitted as: Orphanet:29072
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2A1
Submitted as: Orphanet:99946
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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