Gene: SDHAF2

Alternate names for this Gene: C11orf79|PGL2|SDH5

Gene Summary: This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: succinate dehydrogenase complex assembly factor 2

Type of Gene: protein-coding

rs113560320 in SDHAF2 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 6286462 1982 Genetic aspects of nonchromaffin paraganglioma.

PMID 6264239 1981 Familial non-chromaffinic paragangliomas (glomus tumors) : clinical aspects.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 21224366 2011 SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.

PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PMID 20071235 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

PMID 28099933 2017 Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

PMID 26096992 2015 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

rs113560320 in SDHAF2 gene and Neoplastic Syndromes, Hereditary PMID 20071235 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

PMID 19628817 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 28099933 2017 Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

PMID 24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

rs113560320 in SDHAF2 gene and PARAGANGLIOMAS 2 (disorder) PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 20816580 2010 Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.