Hereditary spastic paraplegia

Gene: CAPN1

Green List (high evidence)

CAPN1 (calpain 1)
EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 8:25 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as it is associated with the phenotype in OMIM, and pathogenic variants described in 3 unrelated families
Created: 5 Jul 2018, 9:38 a.m.
Associated with the phenotype in OMIM, and pathogenic variants described in 3 unrelated families
Created: 5 Jul 2018, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 76 autosomal recessive 616907

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic paraplegia 76 autosomal recessive 616907
OMIM
114220
Clinvar variants
Variants in CAPN1
Penetrance
None
Panels with this gene

History Filter Activity

5 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Gene: capn1 has been classified as Green List (High Evidence).

5 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Gene: capn1 has been classified as Green List (High Evidence).

5 Jul 2018, Gel status: 1

Added New Source

Arianna Tucci (Genomics England Curator)

CAPN1 was added to Hereditary spastic paraplegia panel. Sources: Expert list

5 Jul 2018, Gel status: 1

Created

Arianna Tucci (Genomics England Curator)

CAPN1 was created by Arianna Tucci