Palmoplantar keratoderma and erythrokeratodermas

Gene: JUP

Green List (high evidence)

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 12 panels

2 reviews

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar keratoderma; cardiomyopathy; woolly hair; skin fragility; alopecia

Publications

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Mode of inheritance supported by OMIM and Expert review.
Created: 20 Mar 2017, 10:27 a.m.
Comment on list classification: Updated rating from Amber to Green: 1 Green review plus >3 cases supporting PPK phenotype as part of Naxos disease.
Created: 20 Mar 2017, 10:26 a.m.
Comment on list classification: Updated rating from Red to Amber ready for Expert review. >3 unrelated cases of JUP variants linked to PPK phenotype and Naxos disease (OMIM:601214).
Created: 10 Jan 2017, 4:25 p.m.
>3 JUP variants listed in OMIM for Naxos disease (OMIM:601214), with 4 cases directly listing PPK/palmoplantar keratoderma as a phenotype:
In 3 unrelated Argentinian boys with skin fragility, PPK, and woolly hair, Cabral et al. (2010, PMID: 20130592) identified homozygosity for a nonsense mutation in the JUP gene. In affected members of 9 families and 3 sporadic patients with Naxos disease (NXD; OMIM:601214), all from the neighboring Greek islands of Naxos and Minos, McKoy et al. (2000, PMID:10902626) identified a 2-bp deletion at the 3' end of the plakoglobin (JUP) gene; all of the patients had ARVC, PPK, and woolly hair. In a Kuwaiti sister and brother with skin fragility, palmoplantar keratoderma, and sparse woolly hair (NXD; OMIM:601214), Cabral et al. (2010, PMID:20130592) identified homozygosity for a c.468G-A transition in exon 3 of the JUP gene. In 2 men from a consanguineous Turkish family with arrhythmogenic right ventricular cardiomyopathy, mild palmoplantar keratoderma, and alopecia (NXD; OMIM:601214), Erken et al. (2011, PMID:21668431) identified homozygosity for a c.794G-A transition in exon 4 of the JUP gene, resulting in a R265H substitution.
Created: 9 Jan 2017, 3 p.m.
Naxos disease (OMIM:601214) is an autosomal recessive disorder caused by homozygous mutation in the plakoglobin gene (JUP). The disease combines palmoplantar keratoderma (PPK) and other ectodermal features with cardiac disorders.
Created: 9 Jan 2017, 2:49 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Naxos disease, 601214
  • palmoplantar keratoderma (PPK), keratoderma with woolly hair
  • KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
  • WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES
  • PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
OMIM
173325
Clinvar variants
Variants in JUP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

20 Mar 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for JUP was changed to BIALLELIC, autosomal or pseudoautosomal

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

16 Mar 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for JUP were set to 21668431; 10902626; 20130592

10 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

JUP was created by rfoulger

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

JUP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other