Adult onset neurodegenerative disorder
Gene: CDK16
No disease association in OMIM and only one variant on HGMD in association with ID.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability and spastic paraplegia
Single exome studyCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability and spastic paraplegia
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Amber in 1/7 subpanelsCreated: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual disability and spastic paraplegia
Source Wessex and West Midlands GLH was added to CDK16.
Source Yorkshire and North East GLH was added to CDK16.
Gene: cdk16 has been classified as Red List (Low Evidence).
Source London North GLH was added to CDK16.
Source NHS GMS was added to CDK16.
Source South West GLH was added to CDK16.
Rebecca Foulger: Gene awaiting curator evaluati
gene: CDK16 was added gene: CDK16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber 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 26350204; 25644381 Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia