Palmoplantar keratodermas

Gene: JUP

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: JUP; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

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

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to JUP.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: JUP was added gene: JUP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease; Desmosomal disorders