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  3. CAPN1
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Ataxia - adult onset

Gene: CAPN1

Green List (high evidence)
CAPN1 (calpain 1)
EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Homozygous or compound heterozygotes reported in 4 independent families with cerebellar ataxia and knockout mouse exhibit ataxia (PMID: 27320912). Multiple reports of homozygous cases with hereditary spastic paraparesis and spastic ataxia (PMID: 29678961, 30572172, 31023339, 31104286). Onset in young adulthood.
Sources: Expert list
Created: 16 Jan 2020, 11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 76, autosomal recessive, 616907

Publications

Created: 16 Jan 2020, 11 p.m.

Panel version: 0.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

8 individuals from 3 families reported; of these, 3 had ataxia: the phenotype of this condition remains to be fully elucidated.
Sources: Expert list
Created: 27 Dec 2019, 4:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 76, autosomal recessive, MIM#616907; MONDO:0014827

Publications

Created: 27 Dec 2019, 4:38 a.m.

Panel version: 0.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, 616907
  • MONDO:0014827
OMIM
114220
Clinvar variants
Variants in CAPN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, 616907 to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CAPN1 was added gene: CAPN1 was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286 Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907 Review for gene: CAPN1 was set to GREEN