Gene Symbol:
STAT1
HGNC:11362
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q32.2
Filters:

Definitive classifications

autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Submitted as: OMIM:614162
AD
04/08/2019
Evaluated
10/15/2020
Submitted
immunodeficiency 31B
Submitted as: OMIM:613796
AR
09/21/2023
Evaluated
01/02/2024
Submitted

Strong classifications

autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Submitted as: OMIM:614162
AD
08/31/2018
Evaluated
12/24/2020
Submitted
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Submitted as: OMIM:614162
AD
06/04/2023
Evaluated
11/30/2023
Submitted
immunodeficiency 31B
Submitted as: OMIM:613796
AR
10/13/2021
Evaluated
11/30/2023
Submitted
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Submitted as: OMIM:614892
AD
08/02/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Submitted as: OMIM:614892
AD
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Submitted as: Orphanet:319595
AD
09/14/2021
Evaluated
09/14/2021
Submitted
immunodeficiency 31B
Submitted as: Orphanet:391311
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Submitted as: Orphanet:391487
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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