Gene Symbol:
CSF3R
HGNC:2439
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p34.3
Filters:

Strong classifications

autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Submitted as: OMIM:617014
AR
08/08/2018
Evaluated
12/24/2020
Submitted
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Submitted as: OMIM:617014
AR
12/30/2021
Evaluated
02/03/2022
Submitted
hereditary neutrophilia
Submitted as: OMIM:162830
AD
01/12/2021
Evaluated
02/03/2022
Submitted

Supportive classifications

hereditary neutrophilia
Submitted as: Orphanet:279943
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Submitted as: Orphanet:420702
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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