Genes in panel

Hereditary ataxia - adult onset

Gene: CAPN1

Green List (high evidence)

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

3 reviews

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

I don't know

Several families. Spasticity of lower limbs leading to gait problems. More suitable for an HSP panel. Not on Ox or Shef.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 19 Sep 2019, 1:18 p.m. | Last Modified: 19 Sep 2019, 1:18 p.m.
Panel Version: 1.204
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Ataxia not found in all patients but does seem to be a relatively common finding
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia type 76, 616907

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spastic paraplegia type 76, 616907
OMIM
114220
Clinvar variants
Variants in CAPN1
Penetrance
None
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 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).

27 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to CAPN1.

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia type 76, 616907 for gene: CAPN1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CAPN1.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CAPN1 was added gene: CAPN1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CAPN1 was set to