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  3. CAPN6
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Fetal anomalies

Gene: CAPN6

Red List (low evidence)
CAPN6 (calpain 6)
EnsemblGeneIds (GRCh38): ENSG00000077274
EnsemblGeneIds (GRCh37): ENSG00000077274
OMIM: 300146, Gene2Phenotype
CAPN6 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Soo-Mi Park (CUHNFT)

Red List (low evidence)

Not a Morbid gene or G2P gene. Only one family reported to date with a LoF variant segregating with individuals with developmental delay, variable ID, neuropsychiatric features, epilepsy, secondary microcephaly, hypotonia, worse in males. CAPN6 is known to be expressed in several regions of the developing brain. No prenatal features reported. No functional data.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

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: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

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
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
300146
Clinvar variants
Variants in CAPN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 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 Fetal anomalies. Sources: NHS GMS,Expert Review Red 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