Mitochondrial disease
Gene: SURF1EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with mitochondrial disease.Created: 23 Mar 2022, 4:55 a.m. | Last Modified: 23 Mar 2022, 4:56 a.m.
Panel Version: 0.11795
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Publications
Elena Savva (Victorian Clinical Genetics Services)
only 2 unrelated probands with CMT, no obvious gen-phen correlation based on OMIM/Echaniz-Laguna (2013)Created: 15 Jun 2021, 6:35 a.m. | Last Modified: 15 Jun 2021, 6:35 a.m.
Panel Version: 0.7994
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Publications
- PMID: 24027061
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 185620
- Clinvar variants
- Variants in SURF1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SURF1 was added gene: SURF1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SURF1 was set to Unknown