Gene Symbol:
HAX1
HGNC:16915
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q21.3
Filters:

Ambry Genetics classifications

Kostmann syndrome
Submitted as: OMIM:610738
AR
01/13/2023
Evaluated
08/19/2023
Submitted

Invitae classifications

Kostmann syndrome
Submitted as: OMIM:610738
AR
09/14/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

Kostmann syndrome
Submitted as: Orphanet:99749
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Kostmann syndrome
Submitted as: OMIM:610738
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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