CYLD

CYLD lysine 63 deubiquitinase
OMIM: 605018, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CYLD in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

Amber CYLD in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

Green CYLD in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brooke-Spiegler syndrome, 605041
  • Cylindromatosis, familial, 132700
  • Trichoepithelioma, multiple familial, 1, 601606
  • Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132

Green CYLD in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • familial cylindromatosis MONDO:0007565