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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) |
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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 |
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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 |