Gene Symbol:
SOX3
HGNC:11199
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq27.1
Filters:

Definitive classifications

46,XX sex reversal 3
Submitted as: OMIM:300833
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
intellectual disability, X-linked, with panhypopituitarism
Submitted as: OMIM:300123
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
46,XX sex reversal 3
Submitted as: OMIM:300833
XL
07/22/2015
Evaluated
09/11/2023
Submitted
intellectual disability, X-linked, with panhypopituitarism
Submitted as: OMIM:300123
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

panhypopituitarism, X-linked
Submitted as: OMIM:312000
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
XL
08/02/2023
Evaluated
04/21/2024
Submitted

Supportive classifications

septooptic dysplasia
Submitted as: Orphanet:3157
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
X-linked intellectual disability with isolated growth hormone deficiency
Submitted as: Orphanet:67045
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked congenital generalized hypertrichosis
Submitted as: Orphanet:79495
XL
09/14/2021
Evaluated
09/14/2021
Submitted
panhypopituitarism
Submitted as: Orphanet:90695
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

panhypopituitarism, X-linked
Submitted as: OMIM:312000
XL
01/09/2020
Evaluated
09/28/2021
Submitted
intellectual disability, X-linked, with panhypopituitarism
Submitted as: OMIM:300123
XL
01/09/2020
Evaluated
09/28/2021
Submitted

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