This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: SDHAF1
SDHAF1 (succinate dehydrogenase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
1 review
Emily Jones (North Bristol NHS Trust)
Movement disorder can be present but is not the predominant feature. Multisystemic panels are likely to be more appropriate.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Mitochondrial complex II deficiency, 252011
- OMIM
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex II deficiency
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SDHAF1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SDHAF1 was added gene: SDHAF1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SDHAF1 was set to