Leukodystrophy - paediatric
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 1
- Mitochondrial Leukoencephalopathy
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GFM1 was added gene: GFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy