Cerebellar and Pontocerebellar Hypoplasia

Gene: PUS3

Red List (low evidence)

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

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

History Filter Activity

27 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus3 has been classified as Red List (Low Evidence).

27 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)

27 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUS3 were set to

27 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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