Paraganglioma_phaeochromocytoma
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 9:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paragangliomas 5, MONDO:0013602; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Paragangliomas 5, MONDO:0013602
- Pheochromocytoma, MONDO:0008233
- Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
- Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal Stromal Tumour
- Kidney Cancer
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Pituitary Tumour
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Paraganglioma_phaeochromocytoma
- Leukodystrophy - paediatric
- Fetal anomalies
- Ataxia - adult onset
- Mendeliome
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdha has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sdha has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SDHA was added gene: SDHA was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHA were set to Paragangliomas 5, MONDO:0013602; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165 Review for gene: SDHA was set to GREEN