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  3. CYLD
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Facial papules

Gene: CYLD

Green List (high evidence)
CYLD (CYLD lysine 63 deubiquitinase)
EnsemblGeneIds (GRCh38): ENSG00000083799
EnsemblGeneIds (GRCh37): ENSG00000083799
OMIM: 605018, Gene2Phenotype
CYLD is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Multiple facial papules are a feature of the condition.
Sources: Expert list
Created: 19 Jun 2023, 12:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
familial cylindromatosis MONDO:0007565

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2023, 12:47 a.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • familial cylindromatosis MONDO:0007565
OMIM
605018
Clinvar variants
Variants in CYLD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cyld has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cyld has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYLD was added gene: CYLD was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYLD were set to 32298062 Phenotypes for gene: CYLD were set to familial cylindromatosis MONDO:0007565 Review for gene: CYLD was set to GREEN gene: CYLD was marked as current diagnostic