Hereditary spastic paraplegia
Gene: CAPN1
CAPN1 (calpain 1)
EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 6 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 2019Created: 3 May 2019, 8:25 a.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as it is associated with the phenotype in OMIM, and pathogenic variants described in 3 unrelated familiesCreated: 5 Jul 2018, 9:38 a.m.
Associated with the phenotype in OMIM, and pathogenic variants described in 3 unrelated familiesCreated: 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