1. Panels
  2. Ichthyosis
  3. CLDN10
STRs in panel
Prev Next
Regions in panel
Prev Next

Ichthyosis

Gene: CLDN10

Green List (high evidence)
CLDN10 (claudin 10)
EnsemblGeneIds (GRCh38): ENSG00000134873
EnsemblGeneIds (GRCh37): ENSG00000134873
OMIM: 617579, Gene2Phenotype
CLDN10 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ichthyosis is a prominent feature of the condition
Created: 31 Jan 2020, 1:54 a.m. | Last Modified: 31 Jan 2020, 1:54 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)

Created: 31 Jan 2020, 1:54 a.m.
Last Modified: 31 Jan 2020, 1:54 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • HELIX syndrome MIM#617671
  • hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
OMIM
617579
Clinvar variants
Variants in CLDN10
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn10 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN10 was added gene: CLDN10 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLDN10 was set to Unknown