Activity
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| Intellectual disability v10.64 | WAPL | Achchuthan Shanmugasundram Classified gene: WAPL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.64 | WAPL | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of WAPL gene with intellectual disability/ global developmental delay, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.64 | WAPL | Achchuthan Shanmugasundram Gene: wapl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.63 | WAPL |
Achchuthan Shanmugasundram gene: WAPL was added gene: WAPL was added to Intellectual disability. Sources: Literature Q3_26_promote_green tags were added to gene: WAPL. Mode of inheritance for gene: WAPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WAPL were set to 42431198 Phenotypes for gene: WAPL were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: WAPL was set to GREEN Added comment: PMID:42431198 (2026) reported the identification of heterozygous WAPL variants in 27 patients, of which 19 patients had confirmed de novo variants. The WAPL-related disorder was characterised by developmental delay, intellectual disability, and risk of other developmental anomalies. Syndromic intellectual disability was reported in 6 patients and Global developmental delay (GDD) was reported in 10 patients. Transcriptomics identified significant overlap between WAPL haploinsufficiency and 10q deletion differentially expressed genes. Mice with 50% Wapl expression exhibited mild deficits of growth and learning/memory, whereas those with 25% residual Wapl displayed birth defects and postnatal lethality, revealing a dosage liability threshold below the level of heterozygosity. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with green rating on the intellectual disability panel of PanelApp Australia. Sources: Literature |
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