SDHA

succinate dehydrogenase complex flavoprotein subunit A
OMIM: 600857, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SDHA in Mendeliome Version 2.0	1 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 1.0	1 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 2.0	1 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 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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
Green SDHA in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SDHA in Additional findings_Adult Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Paragangliomas 5 , MIM#614165
Green SDHA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Green SDHA in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011
Green SDHA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	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 1.0	1 review	Unknown	Sources Expert Review Red NSW Health Pathology
Amber SDHA in Fetal anomalies Version 2.0	1 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)
Green SDHA in Pituitary Tumour Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Pituitary tumor, MONDO:0017611 Pituitary gland adenoma, MONDO:0006373 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Green SDHA in Paraganglioma_phaeochromocytoma Level 2: Cancer Predisposition Version 2.0	1 review	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
Green SDHA in Kidney Cancer Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Renal carcinoma, MONDO:0005206 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Green SDHA in Gastrointestinal Stromal Tumour Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Gastrointestinal stromal tumor, MONDO:0011719 Hereditary pheochromocytoma-paraganglioma, MONDO:0017366 Pheochromocytoma/paraganglioma syndrome 5, MIM#614165