Hereditary spastic paraplegiaGene: CDK16
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 8:26 a.m.
Not associated with phenotype in OMIM and as a possible G2P. 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.
Created: 19 Dec 2017, 5:10 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability and spastic paraplegia
This gene has been classified as Amber List (Moderate Evidence).
CDK16 was added to Hereditary spastic paraplegia panel. Sources: Literature
CDK16 was created by Sarah Leigh