Hereditary spastic paraplegia - childhood onset

Gene: CAPN1

Green List (high evidence)

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood and Adult onset. Knockout animal studies show effect on development. PMID: 29678961 describes patient with onset aged 14.
Created: 8 May 2019, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

https://doi.org/10.1016/j.ejmg.2018.12.010 . Whole exome sequencing revealed novel pathogenic CAPN1 mutations in four patients from 3 families of Turkish, Japanese, and Punjabi descent and all were consanguineous. Onset in the four patients 20 and 37 years. Two also had mild ataxia. The phenotype of AR CAPN1 mutations appears to be spastic paraplegia with or without ataxia; onset commonly in adulthood. Eye movement abnormalities, skeletal defects, peripheral neuropathy and amyotrophy can sometimes be seen
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907

Louise Daugherty (Genomics England Curator)

I don't know

Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Comment on list classification: changed to Amber after internal clinical review
Created: 28 Jan 2019, 12:48 p.m.

Arianna Tucci (Genomics England Curator)

I don't know

Age at onset 19 to 39 according to 27153400. consider marking as Amber following discussions with GLH
Created: 14 Jan 2019, 4:35 p.m.

Details

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

History Filter Activity

21 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CAPN1 were set to 27153400

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CAPN1.

28 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CAPN1.

28 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CAPN1.

3 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1

28 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Age at onset 19 to 39 accordin

28 Jan 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CAPN1 were set to

28 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: CAPN1 was added gene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907