Cerebellar and Pontocerebellar Hypoplasia
Gene: TOE1
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
>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
Gene: toe1 has been classified as Green List (High Evidence).
Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Publications for gene: TOE1 were set to
Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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