Cerebellar and Pontocerebellar Hypoplasia
Gene: PUS3
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 hypoplasiaCreated: 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
Gene: pus3 has been classified as Red List (Low Evidence).
Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)
Publications for gene: PUS3 were set to
Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: pus3 has been classified as Red List (Low Evidence).
gene: PUS3 was added gene: PUS3 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PUS3 was set to Unknown