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Childhood onset hereditary spastic paraplegia v1.166 CDK16 Louise Daugherty commented on gene: CDK16: 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.
Childhood onset hereditary spastic paraplegia v1.165 CDK16 Louise Daugherty Source Expert Review Red was added to CDK16.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.164 CDK16 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.92 CDK16 Louise Daugherty Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked
Childhood onset hereditary spastic paraplegia v1.75 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Louise Daugherty commented on gene: CDK16: 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.
Childhood onset hereditary spastic paraplegia v1.51 CDK16 Louise Daugherty commented on gene: CDK16: 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 2017
Childhood onset hereditary spastic paraplegia v1.48 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.5 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.4 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.3 CDK16 Louise Daugherty Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16
Childhood onset hereditary spastic paraplegia v0.6 CDK16 Sarah Leigh 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