Inherited phaeochromocytoma and paraganglioma
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Treena Cranston (Oxford)
UKGTN approved. Reduced penetranceCreated: 30 Sep 2015, 12:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCC; PGL
Publications
- 22429592
- UKGTN
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Paragangliomas 5, OMIM:614165
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165; Hereditary Paraganglioma-Pheochromocytoma Syndrome to Paragangliomas 5, OMIM:614165
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SDHA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
GEL ()SDHA was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()SDHA was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()SDHA was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen