Palmoplantar keratodermas

Gene: CLDN1

Green List (high evidence)

CLDN1 (claudin 1)
EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Palmoplantar keratodermas is not a feature of the phenotype associated with this gene.
Created: 26 Feb 2024, 1:09 p.m. | Last Modified: 26 Feb 2024, 1:09 p.m.
Panel Version: 3.24

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This gene is associated with ichthyosis. I cannot find any association with PPK for this gene.
Created: 19 Aug 2020, 6:29 a.m. | Last Modified: 19 Aug 2020, 6:29 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (MIM#607626)


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: CLDN1; 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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Neonatal ichthyosis-sclerosing cholangitis syndrome
Q1_24_demote_red Q1_24_expert_review
Clinvar variants
Variants in CLDN1
Panels with this gene

History Filter Activity

26 Feb 2024, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_demote_red tag was added to gene: CLDN1. Tag Q1_24_expert_review tag was added to gene: CLDN1.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CLDN1.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CLDN1 was added gene: CLDN1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Neonatal ichthyosis-sclerosing cholangitis syndrome