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Mendeliome

Gene: GFM1

Green List (high evidence)

GFM1 (G elongation factor mitochondrial 1)
EnsemblGeneIds (GRCh38): ENSG00000168827
EnsemblGeneIds (GRCh37): ENSG00000168827
OMIM: 606639, Gene2Phenotype
GFM1 is in 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 unrelated probands have been reported
Created: 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 1 MIM#609060
OMIM
606639
Clinvar variants
Variants in GFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfm1 has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GFM1 were set to

6 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GFM1 was set to Unknown