SDHA

succinate dehydrogenase complex flavoprotein subunit A
OMIM: 600857, Gene2Phenotype

28 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 28 panels
Red SDHA in Left Ventricular Noncompaction Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.4	review	Not set	Sources Expert Review Red Expert list
Green SDHA in Neuroendocrine cancer pertinent cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Paragangliomas 5, OMIM:614165
Green SDHA in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.40	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes gastrointestinal stromal tumors
Green SDHA in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Green SDHA in Inherited predisposition to GIST Version 1.14 Latest signed off version: v1.2 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert List Phenotypes Gastrointestinal stromal tumours
Green SDHA in Inherited phaeochromocytoma and paraganglioma Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Paragangliomas 5, OMIM:614165
Green SDHA in Inherited phaeochromocytoma and paraganglioma excluding NF1 Version 2.6 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Paragangliomas 5, OMIM:614165
Red SDHA in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, 1GG
Green SDHA in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature
Green SDHA in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Amber SDHA in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert List
Green SDHA in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes gastrointestinal stromal tumors
Red SDHA in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Leigh syndrome, 256000 mitochondrial respiratory chain complex II deficiency 252011
Green SDHA in Mitochondrial disorder with complex II deficiency Version 2.10 Latest signed off version: v2.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642
Green SDHA in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642
Green SDHA in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642
Green SDHA in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642
Red SDHA in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes LEIGH SYNDROME
Green SDHA in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000
Amber SDHA in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leigh syndrome 256000 Mitochondrial respiratory chain complex II deficiency 252011
Green SDHA in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165 LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green SDHA in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642
Red SDHA in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Cardiomyopathy, dilated, 1GG, 613642 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011
Amber SDHA in Sarcoma susceptibility Version 1.81 Latest signed off version: v1.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Expert Review Amber Expert List
Amber SDHA in Paediatric or syndromic cardiomyopathy Version 3.46 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH NHS GMS Phenotypes Paragangliomas 5, 614165 Cardiomyopathy, dilated, 1GG, 613642 Mitochondrial Respiratory Chain Complex II Deficiency Leigh syndrome, 256000 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial respiratory chain complex II deficiency, 252011 Isolated complex II deficiency Cardiomyopathy, dilated, 1GG
Red SDHA in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642
Green SDHA in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Paragangliomas 5, 614165 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642
Red SDHA in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011

SDHA

28 panels

Red SDHA in Left Ventricular Noncompaction Cardiomyopathy

Sources

Green SDHA in Neuroendocrine cancer pertinent cancer susceptibility

Sources

Phenotypes

Green SDHA in Adult solid tumours for rare disease

Sources

Phenotypes

Green SDHA in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green SDHA in Inherited predisposition to GIST

Sources

Phenotypes

Green SDHA in Inherited phaeochromocytoma and paraganglioma

Sources

Phenotypes

Green SDHA in Inherited phaeochromocytoma and paraganglioma excluding NF1

Sources

Phenotypes

Red SDHA in Dilated Cardiomyopathy and conduction defects

Sources

Phenotypes

Green SDHA in Structural basal ganglia disorders

Sources

Green SDHA in Inherited white matter disorders

Sources

Phenotypes

Amber SDHA in Sarcoma cancer susceptibility

Sources

Green SDHA in Adult solid tumours cancer susceptibility

Sources

Phenotypes

Red SDHA in Optic neuropathy

Sources

Phenotypes

Green SDHA in Mitochondrial disorder with complex II deficiency

Sources

Phenotypes

Green SDHA in Undiagnosed metabolic disorders

Sources

Phenotypes

Green SDHA in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green SDHA in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Red SDHA in Fetal anomalies

Sources

Phenotypes

Green SDHA in DDG2P

Sources

Phenotypes

Amber SDHA in Early onset or syndromic epilepsy

Sources

Phenotypes

Green SDHA in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Green SDHA in Mitochondrial disorders

Sources

Phenotypes

Red SDHA in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Amber SDHA in Sarcoma susceptibility

Sources

Amber SDHA in Paediatric or syndromic cardiomyopathy

Sources

Phenotypes

Red SDHA in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green SDHA in Severe Paediatric Disorders

Sources

Phenotypes

Red SDHA in Paediatric pseudo-obstruction syndrome