Cerebellar and Pontocerebellar Hypoplasia
Gene: PUS3

PUS3 (pseudouridylate synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000110060
EnsemblGeneIds (GRCh37): ENSG00000110060
OMIM: 616283, Gene2Phenotype
PUS3 is in 4 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

No evidence supporting cerebellar hypoplasia. Not a listed feature in OMIM

PMID: 27055666; Shaheen 2016: Hom LoF variant identified in 3 sibs from a consang family. No evidence of cerebellar hypoplasia.

PMID: 30308082; Abdelrahman 2018: 1 patient, no evidence of cerebellar hypoplasia. MRI showed brain atrophy.

PMID: 30697592; de Paiva 2019: 2 sisters, no evidence of hypoplasia. One sister has cerebellar white matter.

PMID: 31444731; Fang 2020: 1 patient, no evidence of cerebellar hypoplasia
Created: 27 Apr 2020, 6:45 a.m. | Last Modified: 27 Apr 2020, 6:45 a.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 55 (MIM#617051)

Publications

Created: 27 Apr 2020, 6:45 a.m.
Last Modified: 27 Apr 2020, 6:45 a.m.
Panel version: 0.68

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal recessive 55 (MIM#617051)

OMIM

616283

Clinvar variants

Variants in PUS3

Penetrance

None

Publications

Panels with this gene