DDG2P
Gene: CAPN15

CAPN15 (calpain 15)
EnsemblGeneIds (GRCh38): ENSG00000103326
EnsemblGeneIds (GRCh37): ENSG00000103326
OMIM: 603267, Gene2Phenotype
CAPN15 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CAPN15-related oculogastrointestinal neurodevelopmental syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 32885237, 33410501, 36786328, 37596828, 40485323). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03777.
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
MONDO:0036189; CAPN15-related oculogastrointestinal neurodevelopmental syndrome; OMIM:619318.0

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

OMIM:619318.0
MONDO:0036189
CAPN15-related oculogastrointestinal neurodevelopmental syndrome

OMIM

603267

Clinvar variants

Variants in CAPN15

Penetrance

None

Publications

Panels with this gene

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: CAPN15 was added gene: CAPN15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237; 33410501; 40485323; 36786328; 37596828 Phenotypes for gene: CAPN15 were set to OMIM:619318.0; MONDO:0036189; CAPN15-related oculogastrointestinal neurodevelopmental syndrome

DDG2P Gene: CAPN15