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Pityriasis rubra pilaris

Gene: CARD14

Green List (high evidence)

CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 12 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally and promoted to green.
Created: 19 Dec 2016, 1:47 p.m.
Comment on list classification: Multiple cases reports for sporadic PRP, where proband has a de novo variant in this gene that is not present in the parents. Other reports where there is incomplete penetrance. The gene is also associated with psoriasis.
Created: 14 Dec 2016, 2:17 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Pityriasis rubra pilaris
  • 173200
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19/Dec/2016: Promoted to version 1.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Dec 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CARD14 were set to 27760266; 27140437; 26130407; 25734815;24577624 - likely pathogenic variants not identified in patients with non-familial PRP

14 Dec 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CARD14 were set to 27760266; 27140437;26130407;25734815

14 Dec 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CARD14 were set to 27760266;27140437

14 Dec 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

CARD14 was added to Pityriasis rubra pilarispanel. Sources: UKGTN

14 Dec 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CARD14 was added to Pityriasis rubra pilarispanel. Sources: Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris;173200

14 Dec 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CARD14 was added to Pityriasis rubra pilarispanel. Sources: Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris'

24 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CARD14 was created by ellenmcdonagh

24 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CARD14 was added to Pityriasis rubra pilarispanel. Sources: Other