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Cerebral Palsy

Gene: PUM1

Red List (low evidence)

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

Single individual with de novo missense variant in PUM1 reported in a monocentric cohort study (PMID: 39213953). Reported with spastic CP, severe DD, epilepsy, microcephaly, cerebral atrophy, thin corpus callosum.
Sources: Literature
Created: 2 Sep 2024, 6:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Spinocerebellar ataxia 47, MIM#617931

Publications

Details

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

History Filter Activity

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pum1 has been classified as Red List (Low Evidence).

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pum1 has been classified as Red List (Low Evidence).

2 Sep 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: PUM1 was added gene: PUM1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUM1 were set to PMID: 39213953 Phenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Spinocerebellar ataxia 47, MIM#617931 Review for gene: PUM1 was set to RED