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
-
- Inherited predisposition to GIST
- DDG2P
- Neuroendocrine cancer pertinent cancer susceptibility
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma
- Early onset or syndromic epilepsy
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mitochondrial disorder with complex II deficiency
- Inherited white matter disorders
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
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