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Intellectual disability

Gene: CAPN6

Red List (low evidence)
CAPN6 (calpain 6)
EnsemblGeneIds (GRCh38): ENSG00000077274
EnsemblGeneIds (GRCh37): ENSG00000077274
OMIM: 300146, Gene2Phenotype
CAPN6 is in 1 panel

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 41683570 Calì et al., 2026
Report of a family where the older male sibling exhibited severe neurodevelopmental and mild motor coordination disorders, and the younger brother displayed emotional and behavioral dysregulation along with mild motor coordination disorders. The father was asymptomatic, while the mother and daughter showed mild learning disabilities (daughter had normal ID of IQ WISC IV = 93 with learning difficulties, while the mother had borderline ID with WAIS-IV IQ = 71). WES identified an X-linked CAPN6 variant c.1088_1089del, p.Asp363GlyfsTer2 - hemizygous in the 2 sons, and het in the mother and daughter. Unaffected father was WT/WT.

CAPN6 has not yet been associated with disease in OMIM (accessed 26th Oct 2026).
Sources: Literature
Created: 26 Oct 2026, 3:13 p.m. | Last Modified: 26 Oct 2026, 3:13 p.m.
Panel Version: 11.58

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 26 Oct 2026, 3:13 p.m.
Last Modified: 26 Oct 2026, 3:13 p.m.
Panel version: 11.58

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
300146
Clinvar variants
Variants in CAPN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: CAPN6 was added gene: CAPN6 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CAPN6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CAPN6 were set to 41683570 Phenotypes for gene: CAPN6 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: CAPN6 was set to RED