Gene Symbol:
SDHB
HGNC:10681
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.13
Filters:

Definitive classifications

gastrointestinal stromal tumor
Submitted as: OMIM:606764
AD
09/01/2017
Evaluated
09/11/2023
Submitted
paragangliomas 4
Submitted as: OMIM:115310
AD
08/31/2018
Evaluated
12/24/2020
Submitted
Carney-Stratakis syndrome
Submitted as: OMIM:606864
MIT
09/01/2017
Evaluated
09/11/2023
Submitted
mitochondrial disease
AR
03/07/2022
Evaluated
04/21/2024
Submitted
hereditary pheochromocytoma-paraganglioma
AD
06/17/2021
Evaluated
04/21/2024
Submitted

Strong classifications

Carney-Stratakis syndrome
Submitted as: OMIM:606864
AD
03/04/2020
Evaluated
03/31/2021
Submitted
gastrointestinal stromal tumor
Submitted as: OMIM:606764
AD
03/04/2020
Evaluated
03/31/2021
Submitted
renal cell carcinoma
AD
03/04/2020
Evaluated
03/31/2021
Submitted
paragangliomas 4
Submitted as: OMIM:115310
AD
03/04/2020
Evaluated
03/31/2021
Submitted
mitochondrial complex 2 deficiency, nuclear type 4
Submitted as: OMIM:619224
AR
04/16/2021
Evaluated
11/30/2023
Submitted
gastrointestinal stromal tumor
Submitted as: OMIM:606764
AD
11/08/2022
Evaluated
11/30/2023
Submitted
paragangliomas 4
Submitted as: OMIM:115310
AD
01/03/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Cowden disease
Submitted as: Orphanet:201
AD
09/14/2021
Evaluated
09/14/2021
Submitted
mitochondrial complex II deficiency
Submitted as: Orphanet:3208
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary pheochromocytoma-paraganglioma
Submitted as: Orphanet:29072
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Carney-Stratakis syndrome
Submitted as: Orphanet:97286
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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