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Arthrogryposis

Gene: GFM2

Red List (low evidence)

GFM2 (G elongation factor mitochondrial 2)
EnsemblGeneIds (GRCh38): ENSG00000164347
EnsemblGeneIds (GRCh37): ENSG00000164347
OMIM: 606544, Gene2Phenotype
GFM2 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted GFM2 from Amber to Red following confirmation by Zerin Hyder (Genomics England Clinical Team): limited evidence.
Created: 27 Nov 2019, 9:03 p.m. | Last Modified: 27 Nov 2019, 9:03 p.m.
Panel Version: 2.87
Comment on list classification: Demoted to Amber awaiting clinical review: limited evidence.
Created: 26 Nov 2019, 9:49 p.m. | Last Modified: 26 Nov 2019, 9:49 p.m.
Panel Version: 2.71
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, 618397
  • arthrogryposis multiplex congenita
OMIM
606544
Clinvar variants
Variants in GFM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: gfm2 has been classified as Red List (Low Evidence).

26 Nov 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GFM2 were changed from Combined oxidative phosphorylation deficiency 39, 618397 to Combined oxidative phosphorylation deficiency 39, 618397; arthrogryposis multiplex congenita

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: gfm2 has been classified as Amber List (Moderate Evidence).

26 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: GFM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GFM2 were set to 30343943

26 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GFM2 were changed from Epileptic encephalopathy, early infantile, 69 to Combined oxidative phosphorylation deficiency 39, 618397

26 Nov 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: GFM2 was added gene: GFM2 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: GFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: GFM2 were set to 30343943 Phenotypes for gene: GFM2 were set to Epileptic encephalopathy, early infantile, 69