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Mendeliome

Gene: PUM1

Green List (high evidence)

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 with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 47, MIM# 617931
  • Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
OMIM
607204
Clinvar variants
Variants in PUM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719

23 Feb 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446

14 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pum1 has been classified as Green List (High Evidence).

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUM1 were set to

14 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUM1 was added gene: PUM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PUM1 was set to Unknown