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  3. CYLD
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Multiple monogenic benign skin tumours

Gene: CYLD

Green List (high evidence)
CYLD (CYLD lysine 63 deubiquitinase)
EnsemblGeneIds (GRCh38): ENSG00000083799
EnsemblGeneIds (GRCh37): ENSG00000083799
OMIM: 605018, Gene2Phenotype
CYLD is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: CYLD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CYLD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 29 Jan 2019, 10:38 a.m.
Created: 29 Jan 2019, 10:38 a.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
OMIM
605018
Clinvar variants
Variants in CYLD
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CYLD.

29 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CYLD was added gene: CYLD was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYLD were set to Familial cylindromatosis, Multiple familial trichoepitheliomas