Hereditary Neuropathy - complex
Gene: SURF1

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with neuropathy a feature of disease
Created: 4 Aug 2023, 6:08 a.m. | Last Modified: 4 Aug 2023, 6:08 a.m.

Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4K (MIM#616684; MONDO:0014733)

Publications

Created: 4 Aug 2023, 6:08 a.m.
Last Modified: 4 Aug 2023, 6:08 a.m.
Panel version: 0.215

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Leigh syndrome, due to COX IV deficiency, 256000
HMSN
Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV

OMIM

185620

Clinvar variants

Variants in SURF1

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SURF1 was added gene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV

Hereditary Neuropathy - complex Gene: SURF1