Differences of Sex Development
Gene: TOE1
TOE1 (target of EGR1, exonuclease)
EnsemblGeneIds (GRCh38): ENSG00000132773
EnsemblGeneIds (GRCh37): ENSG00000132773
OMIM: 613931, Gene2Phenotype
TOE1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000132773
EnsemblGeneIds (GRCh37): ENSG00000132773
OMIM: 613931, Gene2Phenotype
TOE1 is in 8 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
>10 families with pontocerebellar hypoplasia type 7 (PCH7) reported with biallelic variants.MRI showed reduced cerebellar volume in these families. Ambiguous genitalia is a feature of this condition.
Sources: Expert ReviewCreated: 12 Jul 2020, 11:06 p.m.
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
- Phenotypes
-
- Pontocerebellar hypoplasia, type 7 (MIM#614969)
- OMIM
- 613931
- Clinvar variants
- Variants in TOE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Jul 2020, 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).
13 Jul 2020, 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).
12 Jul 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: TOE1 was added gene: TOE1 was added to Disorders of Sex Differentiation. Sources: Expert Review 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 (MIM#614969) Review for gene: TOE1 was set to GREEN