Leukodystrophy - paediatric
Gene: SDHA
SDHA (succinate dehydrogenase complex flavoprotein subunit A)
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Biallelic variants cause mitochondrial disease, with leukodystrophy a documented feature.Created: 16 Sep 2020, 4:26 a.m. | Last Modified: 16 Sep 2020, 4:26 a.m.
Panel Version: 0.194
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, MIM#252011
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Mitochondrial respiratory chain complex II deficiency, MIM#252011
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SDHA was added gene: SDHA was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011