DDG2P
Gene: PACSIN3

PACSIN3 (protein kinase C and casein kinase substrate in neurons 3)
EnsemblGeneIds (GRCh38): ENSG00000165912
EnsemblGeneIds (GRCh37): ENSG00000165912
OMIM: 606513, Gene2Phenotype
PACSIN3 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PACSIN3-related childhood-onset myopathy with hyperCKaemia are moderate, biallelic_autosomal and loss of function (PMIDs: 29202928, 38637313). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03786.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PACSIN3-related childhood-onset myopathy with hyperCKaemia

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PACSIN3-related childhood-onset myopathy with hyperCKaemia

OMIM

606513

Clinvar variants

Variants in PACSIN3

Penetrance

None

Publications

Panels with this gene

DDG2P

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PACSIN3 was added gene: PACSIN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PACSIN3 were set to 29202928; 38637313 Phenotypes for gene: PACSIN3 were set to PACSIN3-related childhood-onset myopathy with hyperCKaemia

DDG2P Gene: PACSIN3