Early-onset Dementia
Gene: CAPRIN1

CAPRIN1 (cell cycle associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000135387
EnsemblGeneIds (GRCh37): ENSG00000135387
OMIM: 601178, Gene2Phenotype
CAPRIN1 is in 7 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 1 Feb 2025, 9:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy

Publications

39878554

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2025, 9:32 p.m.

Panel version: 1.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Childhood Dementia
Myoclonus-Ataxia
Sensorimotor Neuropathy
cerebellar atrophy
cortical atrophy

OMIM

601178

Clinvar variants

Variants in CAPRIN1

Penetrance

unknown

Publications

39878554

Panels with this gene

History Filter Activity

1 Feb 2025, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: CAPRIN1 was added gene: CAPRIN1 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAPRIN1 were set to 39878554 Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy Penetrance for gene: CAPRIN1 were set to unknown Review for gene: CAPRIN1 was set to GREEN gene: CAPRIN1 was marked as current diagnostic

Early-onset Dementia Gene: CAPRIN1