Adult onset hereditary spastic paraplegia
Gene: CDK16
Childhood onset. Currently only one family reported.Created: 10 May 2019, 11:55 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Not associated with phenotype in OMIM. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male. Publications 26350204, 25644381
. Vctoria: REDCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability and spastic paraplegia, x-linked
Publications for gene: CDK16 were set to
Source Yorkshire and North East GLH was added to CDK16.
Source Expert Review Red was added to CDK16. Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16
Source NHS GMS was added to CDK16.
gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CDK16 was set to