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Intellectual disability v6.11 CLDN11 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CLDN11.
Intellectual disability v6.11 CLDN11 Sarah Leigh reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.10 CLDN11 Achchuthan Shanmugasundram Source Expert Review Green was added to CLDN11.
Source NHS GMS was added to CLDN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.391 CLDN11 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.391 CLDN11 Achchuthan Shanmugasundram Classified gene: CLDN11 as Amber List (moderate evidence)
Intellectual disability v5.391 CLDN11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.
Intellectual disability v5.391 CLDN11 Achchuthan Shanmugasundram Gene: cldn11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.390 CLDN11 Achchuthan Shanmugasundram Classified gene: CLDN11 as Amber List (moderate evidence)
Intellectual disability v5.390 CLDN11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.
Intellectual disability v5.390 CLDN11 Achchuthan Shanmugasundram Gene: cldn11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.389 CLDN11 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN11.
Intellectual disability v5.389 CLDN11 Achchuthan Shanmugasundram gene: CLDN11 was added
gene: CLDN11 was added to Intellectual disability - microarray and sequencing. 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 Leukodystrophy, hypomyelinating, 22, OMIM:619328
Review for gene: CLDN11 was set to GREEN
Added comment: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. These patients exhibit global developmental delay, particularly motor and speech delay. Intellectual disability was maximally mild in two of three individuals and the intelligence is in a low-normal range in third individual, although IQ testing was not performed in them.

Two different heterozygous de novo stop-loss variants were identified in these patients. 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.

This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes global developmental delay and impaired intellectual development (mild) as clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature