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Prepair 1000+

Gene: CLDN10

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 10 families reported to date. Other severe skin disorders are similarly included in the panel. This condition includes multi-system features.
Created: 11 Oct 2024, 7:10 a.m. | Last Modified: 11 Oct 2024, 7:10 a.m.
Panel Version: 1.393

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HELIX syndrome, MIM#617671

Publications

Created: 11 Oct 2024, 7:10 a.m.
Last Modified: 11 Oct 2024, 7:10 a.m.
Panel version: 1.393

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Established gene-disease association.

Major phenotypic presentations include hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX).

PMID: 28674042: Reported 2 patients, only one presented with mild renal insufficiency.
Created: 7 Oct 2024, 6:28 a.m. | Last Modified: 7 Oct 2024, 6:28 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HELIX syndrome (MIM#617671)

Publications

Created: 7 Oct 2024, 6:28 a.m.
Last Modified: 7 Oct 2024, 6:28 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HELIX syndrome, MIM#617671
OMIM
617579
Clinvar variants
Variants in CLDN10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, 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).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLDN10 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN10 was added gene: CLDN10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive