Gene Symbol:
SOX9
HGNC:11204
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q24.3
Filters:

Definitive classifications

campomelic dysplasia
AD
06/01/2020
Evaluated
04/21/2024
Submitted
campomelic dysplasia
Submitted as: OMIM:114290
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

campomelic dysplasia
Submitted as: OMIM:114290
AD
09/06/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

isolated Pierre-Robin syndrome
Submitted as: Orphanet:718
AD
09/14/2021
Evaluated
09/14/2021
Submitted
campomelic dysplasia
Submitted as: Orphanet:140
AD
09/14/2021
Evaluated
09/14/2021
Submitted
46,XY complete gonadal dysgenesis
Submitted as: Orphanet:242
AD
09/14/2021
Evaluated
09/14/2021
Submitted
46,XX ovotesticular disorder of sex development
Submitted as: Orphanet:2138
AD
09/14/2021
Evaluated
09/14/2021
Submitted
46,XX sex reversal 1
Submitted as: Orphanet:393
AD
09/14/2021
Evaluated
09/14/2021
Submitted
46,XY partial gonadal dysgenesis
Submitted as: Orphanet:251510
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

isolated Pierre-Robin syndrome
AD
09/16/2020
Evaluated
04/21/2024
Submitted
AD
09/16/2020
Evaluated
04/21/2024
Submitted

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