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| Intellectual disability v11.58 | CAPN6 |
Ida Ertmanska changed review comment from: 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. Sources: Literature; to: 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 |
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| Intellectual disability v11.58 | CAPN6 |
Ida Ertmanska 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 Added comment: 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. Sources: Literature |
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