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Intellectual disability syndromic and non-syndromic

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)

Comment on list classification: Another two families reported.
Created: 31 Dec 2019, 7:45 a.m. | Last Modified: 31 Dec 2019, 7:45 a.m.
Panel Version: 0.1458
A small number of families reported: severity ranges from adult-onset disease to early-onset disease, associated with EE/ID.
Created: 9 Dec 2019, 1:49 a.m. | Last Modified: 9 Dec 2019, 1:49 a.m.
Panel Version: 0.1031

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
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
  • Genetic Health Queensland
Phenotypes
  • 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; intellectual disability; epilepsy to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719

31 Dec 2019, 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).

31 Dec 2019, 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 to Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy

31 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUM1 were set to 29474920; 25768905

31 Dec 2019, 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).

9 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pum1 has been classified as Amber List (Moderate Evidence).

9 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM#617931

9 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PUM1 were set to

9 Dec 2019, Gel status: 2

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

9 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pum1 has been classified as Amber List (Moderate Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUM1 was set to Unknown