Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:34 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: CLDN1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: cldn1 has been classified as Green List (High Evidence).
Source Other was added to CLDN1. Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ichthyosis-hypotrichosis-sclerosing cholangitis; Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626; Neonatal and Adult Cholestasis; NISCH syndrome; Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome for gene: CLDN1 Publications for gene CLDN1 were changed from to 24641442; 16619213; 15521008; 12164927; 28154377; 29146216
Source Expert Review Green was added to CLDN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CLDN1 was added gene: CLDN1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CLDN1 was set to