This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: SURF1
SURF1 (SURF1, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 185620
- Clinvar variants
- Variants in SURF1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex IV deficiency
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SURF1 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)SURF1 was created by Sarah Leigh