CARD14

caspase recruitment domain family member 14
OMIM: 607211, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CARD14 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pityriasis rubra pilaris, 173200
  • familial pityriasis rubra pilaris
  • keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma

Red CARD14 in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Pityriasis rubra pilaris, 173200
  • PRP
  • thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

Green CARD14 in Pityriasis rubra pilaris


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Pityriasis rubra pilaris
  • 173200

Green CARD14 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CARD14 mediated psoriasis Psoriasis 2, 602723
  • Pityriasis rubra pilaris,173200
  • Other autoinflammatory diseases with known genetic defect

Green CARD14 in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis 2, 602723
  • Autoinflammatory Disorders
  • Pityriasis rubra pilaris,173200
  • immune dysregulation
  • CARD14 mediated psoriasis
  • Psoriasis

Green CARD14 in Ichthyosis and erythrokeratoderma


Version 1.68
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200

Red CARD14 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Pityriasis rubra pilaris, 173200
  • PRP
  • thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

Green CARD14 in Rare genetic inflammatory skin disorders


Version 1.40
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
  • Psoriasis 2, OMIM:602723

Green CARD14 in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • CARD14 mediated psoriasis
  • Psoriasis 2, 602723
  • Pityriasis rubra pilaris,173200
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis
  • Autoinflammatory Disorders
  • immune dysregulation

Red CARD14 in Mosaic skin disorders - deep sequencing


Version 1.5
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ILVEN (submitted 2 cases)

Green CARD14 in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Psoriasis 2, 602723
  • Pityriasis rubra pilaris, 173200