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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TOE1
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Cerebellar and Pontocerebellar 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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PCH7 is a severe neurologic condition characterised by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. More than 10 families reported, mouse model.
Created: 14 Feb 2021, 10:21 a.m. | Last Modified: 14 Feb 2021, 10:21 a.m.
Panel Version: 0.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 7, MIM# 614969

Publications

Created: 14 Feb 2021, 10:21 a.m.
Last Modified: 14 Feb 2021, 10:21 a.m.
Panel version: 0.212

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families with pontocerebellar hypoplasia type 7 (PCH7) reported with biallelic variants.MRI showed reduced cerebellar volume in these families.
Created: 12 Jul 2020, 11:03 p.m. | Last Modified: 12 Jul 2020, 11:03 p.m.
Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 7 (MIM#614969)

Publications

Created: 12 Jul 2020, 11:03 p.m.
Last Modified: 12 Jul 2020, 11:03 p.m.
Panel version: 0.140

Details

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

History Filter Activity

14 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: toe1 has been classified as Green List (High Evidence).

14 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969

14 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOE1 were set to

14 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOE1 was added gene: TOE1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TOE1 was set to Unknown