Hereditary spastic paraplegia - childhood onsetGene: CAPN1
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
Spastic paraplegia 76 autosomal recessive, 616907
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.
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.
Source Expert Review Green was added to CAPN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: CAPN1 were set to 27153400
Source Yorkshire and North East GLH was added to CAPN1.
Source NHS GMS was added to CAPN1.
Source London North GLH was added to CAPN1.
Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Arianna Tucci: Age at onset 19 to 39 accordin
Publications for gene: CAPN1 were set to
Gene: capn1 has been classified as Amber List (Moderate Evidence).
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