Gene Symbol:
NKX2-1
HGNC:11825
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q13.3
Filters:

Definitive classifications

hereditary progressive chorea without dementia
Submitted as: OMIM:118700
AD
07/22/2015
Evaluated
11/25/2020
Submitted
brain-lung-thyroid syndrome
Submitted as: OMIM:610978
AD
07/22/2015
Evaluated
09/11/2023
Submitted
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
AD
07/27/2023
Evaluated
10/18/2023
Submitted

Strong classifications

brain-lung-thyroid syndrome
Submitted as: OMIM:610978
AD
02/18/2021
Evaluated
03/31/2021
Submitted
hereditary progressive chorea without dementia
Submitted as: OMIM:118700
AD
02/18/2021
Evaluated
03/31/2021
Submitted
brain-lung-thyroid syndrome
Submitted as: OMIM:610978
AD
07/06/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

choreatic disease
Submitted as: Orphanet:1429
AD
09/14/2021
Evaluated
09/14/2021
Submitted
brain-lung-thyroid syndrome
Submitted as: Orphanet:209905
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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