Genes in panel

Adult onset movement disorder

Gene: GIGYF2

Red List (low evidence)

GIGYF2 (GRB10 interacting GYF protein 2)
EnsemblGeneIds (GRCh38): ENSG00000204120
EnsemblGeneIds (GRCh37): ENSG00000204120
OMIM: 612003, Gene2Phenotype
GIGYF2 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:20 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:15 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

See comments on Parkinson disease and complex parkinsonism panel
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
{Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688

Publications

Details

Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Susceptibility to Parkinson disease 11, 607688
  • {Parkinson disease 11}
OMIM
612003
Clinvar variants
Variants in GIGYF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Susceptibility to Parkinson disease 11, 607688; {Parkinson disease 11} for gene: GIGYF2 Publications for gene GIGYF2 were changed from 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 to 20060621; 20044296; 19482505; 201788319; 26134514; 19449032; 19321232; 19429085; 20685231; 18923002; 19250854; 19279319; 18358451

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GIGYF2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GIGYF2.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GIGYF2 was added gene: GIGYF2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: GIGYF2 was set to Publications for gene: GIGYF2 were set to 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688