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Differences of Sex Development v0.51 | TOE1 | Zornitza Stark Marked gene: TOE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.51 | TOE1 | Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.51 | TOE1 | Zornitza Stark Classified gene: TOE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.51 | TOE1 | Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences of Sex Development v0.42 | TOE1 |
Crystle Lee 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 Added comment: >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 Review |