Inherited white matter disorders
Gene: SURF1EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COMPLEX IV DEFICIENCY, more than 3 unrelated cases and different variants reported in OMIM for Leigh syndrome, due to COX IV deficiency. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial complex IV disorders. Green gene in the Mitochondrial panel version 1.10 and ID panel version 1.2.Created: 25 Aug 2016, 1:37 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_663
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex IV disorder
- Leigh syndrome, due to COX IV deficiency
- OMIM
- 185620
- Clinvar variants
- Variants in SURF1
- Penetrance
- Complete
- Publications
-
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_560
- Panels with this gene
-
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SURF1 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder;Leigh syndrome, due to COX IV deficiency
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)SURF1 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SURF1 was created by [email protected]