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  3. CAPN1
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Hereditary neuropathy or pain disorder

Gene: CAPN1

Green List (high evidence)
CAPN1 (calpain 1)
EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
CAPN1 variants have been associated with Spastic paraplegia 76, autosomal recessive (OMIM:616907). At least four variants have been reported in at least three unrelated cases (PMID:27153400). Four animal models (dog, drosophila, zebrafish and C. elegans), support the ascertion that CAPN1 variants are associated with OMIM:616907 (PMID: 27153400; 23741357).
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive spastic paraplegia type 76, MONDO:0014827; Spastic paraplegia 76, autosomal recessive, OMIM:616907

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

3 families
Sources: Expert list
Created: 19 Oct 2024, 9:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spasticity; pes cavus; peripheral neuropathy

Publications

Created: 19 Oct 2024, 9:55 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal recessive spastic paraplegia type 76, MONDO:0014827
  • Spastic paraplegia 76, autosomal recessive, OMIM:616907
OMIM
114220
Clinvar variants
Variants in CAPN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CAPN1. Tag Q3_24_NHS_review was removed from gene: CAPN1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CAPN1. Source Expert Review Green was added to CAPN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CAPN1 were changed from spasticity; pes cavus; peripheral neuropathy to autosomal recessive spastic paraplegia type 76, MONDO:0014827; Spastic paraplegia 76, autosomal recessive, OMIM:616907

4 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CAPN1. Tag Q3_24_NHS_review tag was added to gene: CAPN1.

4 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: capn1 has been classified as Amber List (Moderate Evidence).

19 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: CAPN1 was added gene: CAPN1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27153400 Phenotypes for gene: CAPN1 were set to spasticity; pes cavus; peripheral neuropathy Penetrance for gene: CAPN1 were set to Complete Review for gene: CAPN1 was set to GREEN