Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: GUF1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with homozygous missense in three sibs.
Sources: Expert list
Created: 3 Jan 2020, 1:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 40, MIM# 617065

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 40, MIM# 617065
OMIM
617064
Clinvar variants
Variants in GUF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: guf1 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUF1 was added gene: GUF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list 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, MIM# 617065 Review for gene: GUF1 was set to RED