Paediatric pseudo-obstruction syndrome
Gene: SDHA
SDHA (succinate dehydrogenase complex flavoprotein subunit A)
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. A quick literature search did not find any literature making an association. So, this gene should be rated as RED.Created: 30 Dec 2022, 7:19 p.m. | Last Modified: 30 Dec 2022, 7:19 p.m.
Panel Version: 0.128
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Encodes various subunits of the respiratory chain as well as ancillary proteins.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Panels with this gene
-
- Inherited predisposition to GIST
- DDG2P
- Neuroendocrine cancer pertinent cancer susceptibility
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mitochondrial disorder with complex II deficiency
- Inherited white matter disorders
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
4 Jan 2023, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
4 Jan 2023, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SDHA was set to