Gene Symbol:
CYP11B1
HGNC:2591
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q24.3
Filters:

Definitive classifications

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
AR
08/21/2018
Evaluated
10/13/2020
Submitted
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Submitted as: OMIM:202010
AR
06/11/2018
Evaluated
03/02/2021
Submitted

Strong classifications

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Submitted as: OMIM:202010
AR
06/15/2021
Evaluated
02/03/2022
Submitted
glucocorticoid-remediable aldosteronism
Submitted as: OMIM:103900
AD
02/02/2022
Evaluated
02/03/2022
Submitted

Supportive classifications

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Submitted as: Orphanet:90795
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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