Arthrogryposis
Gene: GFM2
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
Phenotypes for gene: GFM2 were changed from Combined oxidative phosphorylation deficiency 39, 618397; arthrogryposis multiplex congenita to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Gene: gfm2 has been classified as Red List (Low Evidence).
Phenotypes for gene: GFM2 were changed from Combined oxidative phosphorylation deficiency 39, 618397 to Combined oxidative phosphorylation deficiency 39, 618397; arthrogryposis multiplex congenita
Gene: gfm2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: GFM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM2 were set to 30343943
Phenotypes for gene: GFM2 were changed from Epileptic encephalopathy, early infantile, 69 to Combined oxidative phosphorylation deficiency 39, 618397
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