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Genetic epilepsy syndromes

Gene: GUF1

Amber List (moderate evidence)

GUF1 (GUF1 homolog, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000151806
EnsemblGeneIds (GRCh37): ENSG00000151806
OMIM: 617064, Gene2Phenotype
GUF1 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AR EIEE40 - Alfaiz et al, 2016 - 3 sibs consang Algerian parents onset of refractory seizures between 4 nd 6 months of age - all had a hom missense mutation, functional work support pathogenic.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Epileptic encephalopathy, early infantile, 40, 617065

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 40, 617065
OMIM
617064
Clinvar variants
Variants in GUF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GUF1 was added gene: GUF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUF1 were set to 26486472 Phenotypes for gene: GUF1 were set to ?Epileptic encephalopathy, early infantile, 40, 617065