Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TOE1

Green List (high evidence)

TOE1 (target of EGR1, exonuclease)
EnsemblGeneIds (GRCh38): ENSG00000132773
EnsemblGeneIds (GRCh37): ENSG00000132773
OMIM: 613931, Gene2Phenotype
TOE1 is in 9 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 7 614969
OMIM
613931
Clinvar variants
Variants in TOE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TOE1 was added gene: TOE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOE1 were set to 28092684 Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7 614969