Cardiomyopathy_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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Cardiomyopathy, dilated, 1GG
- Leigh syndrome, 256000
- Mitochondrial respiratory chain complex II deficiency, 252011
- Mitochondrial Respiratory Chain Complex II Deficiency
- Paragangliomas 5, 614165
- Isolated complex II deficiency
- Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Cardiomyopathy, dilated, 1GG, 613642
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Publications
- 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
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SDHA was added gene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642