Mitochondrial disease
Gene: GFM1
GFM1 (G elongation factor mitochondrial 1)
EnsemblGeneIds (GRCh38): ENSG00000168827
EnsemblGeneIds (GRCh37): ENSG00000168827
OMIM: 606639, Gene2Phenotype
GFM1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000168827
EnsemblGeneIds (GRCh37): ENSG00000168827
OMIM: 606639, Gene2Phenotype
GFM1 is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
>10 unrelated probands have been reportedCreated: 6 Dec 2021, 1:27 a.m. | Last Modified: 6 Dec 2021, 1:27 a.m.
Panel Version: 0.10089
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 1 MIM#609060
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- OMIM
- 606639
- Clinvar variants
- Variants in GFM1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GFM1 was added gene: GFM1 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: GFM1 was set to Unknown