Ataxia - adult onset
Gene: PUM1

PUM1 (pumilio RNA binding family member 1)
EnsemblGeneIds (GRCh38): ENSG00000134644
EnsemblGeneIds (GRCh37): ENSG00000134644
OMIM: 607204, Gene2Phenotype
PUM1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported. Individuals with either PUM1 deletions or de novo missense variants have a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). One family with milder missense variant and adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA)
Created: 14 Apr 2022, 6:53 a.m. | Last Modified: 14 Apr 2022, 6:53 a.m.

Panel Version: 0.12917

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related

Publications

Created: 14 Apr 2022, 6:53 a.m.
Last Modified: 14 Apr 2022, 6:53 a.m.
Panel version: Imported from Mendeliome panel version 0.12917

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia 47, 617931

OMIM

607204

Clinvar variants

Variants in PUM1

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PUM1 was added gene: PUM1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PUM1 were set to Spinocerebellar ataxia 47, 617931

Ataxia - adult onset Gene: PUM1