TEST Undiagnosed metabolic disorders
Gene: SURF1

SURF1 (SURF1, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

185620

Clinvar variants

Variants in SURF1

Penetrance

None

Publications

27604308

Panels with this gene

Structural basal ganglia disorders
Childhood onset dystonia, chorea or related movement disorder
Undiagnosed metabolic disorders
Inherited white matter disorders
Paediatric pseudo-obstruction syndrome
Mitochondrial disorders
Paediatric or syndromic cardiomyopathy
Likely inborn error of metabolism
Intellectual disability
Possible mitochondrial disorder - nuclear genes
Hereditary neuropathy or pain disorder
Early onset or syndromic epilepsy
Adult onset dystonia, chorea or related movement disorder
Fetal anomalies
DDG2P
Mitochondrial disorder with complex IV deficiency
White matter disorders and cerebral calcification - narrow panel
Hereditary neuropathy

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: SURF1 was added gene: SURF1 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SURF1 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: SURF1

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: SURF1