White matter disorders and cerebral calcification - narrow panel
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex II deficiency 252011
- OMIM
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Mitochondrial disorder with complex II deficiency
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SDHAF1 was added gene: SDHAF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 25655951; 22995659; 19465911 Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011