Optic neuropathy
Gene: SDHAEnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
PMID: 27683074 Courage et al., 2017
Heterozygous variant c.1351C>T p.(Arg451Cys) in SDHA detected in all 3 affected individuals, presenting with a mix of optic atrophy, cardiomyopathy, and neurologic involvement. Index patient (father, II:5) presented with bilateral optic atrophy, progressive polyneuropathy, cardiomyopathy and psychiatric involvement. His son, III:2, developed bilateral optic atrophy in adulthood, also had cardiomyopathy. His daughter III:4 died at age 7 months due to cardiac insufficiency.
PMID: 33471299 Zehavi et al., 2021
Report of an adolescent female who presented with global developmental delay, intellectual disability and childhood onset progressive bilateral optic atrophy. WES revealed a heterozygous de novo variant in SDHA NM_004168.4: c.1984C>T, p.Arg662Cys (confirmed absent in parents). Patient's derived fibroblasts and lymphocytes displayed considerably decreased CII residual activity. Variant hypothesised to affect structural integrity of the FAD-binding protein domain.
https://iovs.arvojournals.org/article.aspx?articleid=2779597 Pemp et al., 2022
Isolated dominant optic atrophy with childhood onset in a family with the heterozygous SDHA mutation NM_004168.4:c.1351C>T p.(Arg451Cys). Presented with bilateral optic atrophy, central visual field defects, severely reduced pRNFL thickness and moderately reduced mGCL thickness.
SDHA has been linked to AD Neurodegeneration with ataxia and late-onset optic atrophy, MIM:619259 in OMIM (accessed 12th Jan 2026).Created: 12 Jan 2026, 1:46 p.m. | Last Modified: 12 Jan 2026, 1:46 p.m.
Panel Version: 5.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259
Publications
Tom Cullup (Great Ormond Street Hospital)
A specific change was reported in AD casesCreated: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- London North GLH
- Phenotypes
-
- Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259
- Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
- Cardiomyopathy, dilated, 1GG, OMIM:613642
- Pheochromocytoma/paraganglioma syndrome 5, OMIM:614165
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sarcoma susceptibility
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Early onset or syndromic epilepsy
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Left Ventricular Noncompaction Cardiomyopathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011 to Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Cardiomyopathy, dilated, 1GG, OMIM:613642; Pheochromocytoma/paraganglioma syndrome 5, OMIM:614165
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: SDHA were set to 27683074
Set mode of inheritance
Ida Ertmanska (Genomics England Curator)Mode of inheritance for gene: SDHA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: sdha has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SDHA were changed from to Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SDHA were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SDHA was set to