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  2. Inherited phaeochromocytoma and paraganglioma
  3. SDHAF2
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Inherited phaeochromocytoma and paraganglioma

Gene: SDHAF2

Green List (high evidence)
SDHAF2 (succinate dehydrogenase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Katie Snape (South London GMC)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Treena Cranston (Oxford)

Green List (high evidence)

Rare cause PGL/PCC. UKGTN approved. Parent of origin effect - Paternally inherited.
Created: 30 Sep 2015, 11:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PGL; PCC

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Sep 2015, 11:39 a.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 2, 601650
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
OMIM
613019
Clinvar variants
Variants in SDHAF2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SDHAF2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

SDHAF2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SDHAF2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SDHAF2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SDHAF2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen