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DDG2P

Gene: CAPRIN1

Green List (high evidence)
CAPRIN1 (cell cycle associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000135387
EnsemblGeneIds (GRCh37): ENSG00000135387
OMIM: 601178, Gene2Phenotype
CAPRIN1 is in 5 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636)
Created: 3 Apr 2024, 10:42 a.m. | Last Modified: 3 Apr 2024, 10:42 a.m.
Panel Version: 3.82
Created: 3 Apr 2024, 10:42 a.m.
Last Modified: 3 Apr 2024, 10:42 a.m.
Panel version: 3.82

Eleanor Williams (Genomics England Curator)

This gene currently no disease phenotype in OMIM, but checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1617
Created: 16 Oct 2023, 4:04 p.m. | Last Modified: 16 Oct 2023, 4:04 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 4:04 p.m.
Last Modified: 16 Oct 2023, 4:04 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CAPRIN1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 23849776, 35979925). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01316.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CAPRIN1-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMIDs: 23849776;35979925).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CAPRIN1-related neurodevelopmental disorder; OMIM:620782.0; MONDO:0968945

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
OMIM
601178
Clinvar variants
Variants in CAPRIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CAPRIN1 was changed from Other to None

3 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636

3 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636

3 Apr 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: CAPRIN1.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: CAPRIN1.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CAPRIN1. Mode of pathogenicity for gene CAPRIN1 was changed from to Other Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CAPRIN1 was added gene: CAPRIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 23849776 Phenotypes for gene: CAPRIN1 were set to AUTISM OR INTELLECTUAL DISABILITY