Neonatal cholestasis
Gene: CLDN1EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 6 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as Ready, July 25th. Sufficient evidence (>3 unrelated cases and expert review) for Green rating.Created: 25 Jul 2018, 10:43 a.m.
Comment on list classification: Updated rating from Amber to Green following curator review. Green expert review and used in diagnosis, PLUS >3 unrelated cases (and >3 variants) from OMIM and literature of CLDN1 variants causing sclerosing cholangitis, a progressive cholestatic liver disease.Created: 25 Jul 2018, 10:42 a.m.
2 unrelated cases of sclerosing cholangitis (MIM:607626) with 2 variants featured on MIM from PMID:15521008 (2004) and PMID:16619213 (2006). Further cases with additional variants reported in more recent literature: PMID:28154377 (2017) present a consanguineous family with NISCH syndrome and a homozygous p.Tyr159Ter mutation in the patients. PMID:24641442 (2014) report 2 patients from a Turkish family with NISCH syndrome and a homozygous variant in CLDN1 (c.181C>T, p.Gln61X).Created: 25 Jul 2018, 10:39 a.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.Created: 25 Jul 2018, 9:43 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ichthyosis-hypotrichosis-sclerosing cholangitis
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
- ichthyosis-hypotrichosis-sclerosing cholangitis
- NISCH syndrome
- Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
- OMIM
- 603718
- Clinvar variants
- Variants in CLDN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: cldn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: cldn1 has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: CLDN1 were set to Neonatal and Adult Cholestasis; Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626; ichthyosis-hypotrichosis-sclerosing cholangitis; NISCH syndrome; Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CLDN1 were set to 12164927; 15521008; 24641442; 28154377; 16619213; 29146216
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: CLDN1 were set to Neonatal and Adult Cholestasis; Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626; ichthyosis-hypotrichosis-sclerosing cholangitis
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CLDN1 were set to 12164927; 15521008
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: CLDN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set penetrance
Rebecca Foulger (Genomics England curator)Phenotypes for gene CLDN1 were set to Neonatal and Adult Cholestasis, Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
Removed Source, Set penetrance
Rebecca Foulger (Genomics England curator)Source Victorian Clinical Genetics Services was removed from CLDN1. Panel: Cholestasis Phenotypes for gene CLDN1 were set to Neonatal and Adult Cholestasis, Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to CLDN1. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to CLDN1. Panel: Cholestasis Model of inheritance for gene CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene CLDN1 were set to Neonatal and Adult Cholestasis, Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis
Added New Source
Ellen McDonagh (Genomics England Curator)CLDN1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)CLDN1 was created by Ellen McDonagh