SDHA

succinate dehydrogenase complex flavoprotein subunit A
OMIM: 600857, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SDHA in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011 Cardiomyopathy, dilated, 1GG, MIM# 613642 Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Paragangliomas 5 , MIM#614165
Green SDHA in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paragangliomas 5, MIM# 614165
Amber SDHA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leigh syndrome, MIM#256000
Green SDHA in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green SDHA in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SDHA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex II deficiency, nuclear type 1 MIM#252011
Amber SDHA in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Green SDHA in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011
Red SDHA in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Paragangliomas 5
Red SDHA in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Paragangliomas 5
Red SDHA in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Paragangliomas 5
Green SDHA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	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
Red SDHA in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources Expert Review Red NSW Health Pathology
Amber SDHA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cardiomyopathy, dilated, 1GG (MIM#613642) Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011)