White matter disorders and cerebral calcification - narrow panel
Gene: CLDN11
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Not associated with relevant phenotype in OMIM (entry last edited on 01/14/2013) or Gen2Phen. Two stop loss variants reported in three unrelated cases. Both variants resulted in an 39aa extension - c.622T>C, p.(208Glnext*39) in two individuals and c.622T>G, p.(208Gluext*39) in one individual, all occurring de novo. At the RNA level, the variant c.622T>C did not lead to a loss of expression in fibroblasts, indicating this transcript is not subject to nonsense-mediated decay (PMID 33313762). The reporting authors predict that the extended claudin-11 forms an alpha helix which is not incorporated into the cytoplasmic membrane, possibly perturbing its interaction with intracellular proteins.Created: 20 Apr 2021, 1:43 p.m. | Last Modified: 20 Apr 2021, 1:47 p.m.
Panel Version: 1.39
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Apr 2021, 1:32 p.m. | Last Modified: 20 Apr 2021, 1:32 p.m.
Panel Version: 1.39
In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.
Sources: LiteratureCreated: 19 Apr 2021, 8:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomyelinating leukodystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Leukodystrophy, hypomyelinating, 22, OMIM:619328
Tag Q2_21_rating was removed from gene: CLDN11.
Source NHS GMS was added to CLDN11. Source Expert Review Green was added to CLDN11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: CLDN11.
Gene: cldn11 has been classified as Amber List (Moderate Evidence).
gene: CLDN11 was added gene: CLDN11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy Review for gene: CLDN11 was set to GREEN gene: CLDN11 was marked as current diagnostic