Childhood onset hereditary spastic paraplegia
Gene: CDK16
Childhood onset. Currently only one family reported.Created: 10 May 2019, 11:54 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Amber gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red 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.
Amber rating on Hereditary spastic paraplegia panel 1.198
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.
Sarah Leigh (Genomics England Curator), 19 Dec 2017Created: 2 May 2019, 3:50 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: RED.Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability and spastic paraplegia, x-linked
Source Expert Review Red was added to CDK16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked
Source Yorkshire and North East GLH was added to CDK16.
Source NHS GMS was added to CDK16.
Source London North GLH was added to CDK16.
Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16
Arianna Tucci: Age at onset 19 to 39 accordin
gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CDK16 were set to 25644381; 26350204 Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia