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Intellectual disability syndromic and non-syndromic

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

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, 10:25 a.m. | Last Modified: 14 Feb 2021, 10:25 a.m.
Panel Version: 0.3449

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 7, MIM# 614969

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TOE1 was set to Unknown