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  3. TOE1
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Cerebellar hypoplasia

Gene: TOE1

Green List (high evidence)
TOE1 (target of EGR1, exonuclease)
EnsemblGeneIds (GRCh38): ENSG00000132773
EnsemblGeneIds (GRCh37): ENSG00000132773
OMIM: 613931, Gene2Phenotype
TOE1 is in 8 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases for causation.
Created: 25 May 2017, 2:56 p.m.
Sufficient cases. See PMID.
Created: 25 May 2017, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 7 614969

Publications

Created: 25 May 2017, 2:55 p.m.

Panel version: 1.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 7 614969
OMIM
613931
Clinvar variants
Variants in TOE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

TOE1 was created by helen.brittain

25 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

TOE1 was added to Cerebellar hypoplasiapanel. Sources: Literature