| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3562 | BAIAP2 | Bryony Thompson Marked gene: BAIAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3562 | BAIAP2 | Bryony Thompson Gene: baiap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3562 | BAIAP2 | Bryony Thompson Classified gene: BAIAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3562 | BAIAP2 | Bryony Thompson Gene: baiap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3561 | BAIAP2 |
Bryony Thompson gene: BAIAP2 was added gene: BAIAP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAIAP2 were set to 41133935; 38149472 Phenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 Review for gene: BAIAP2 was set to GREEN Added comment: The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. 6 individuals with de novo GoF missense variants with DEE. Only 1 individual reported with a LoF missense variant & lissencephaly. PMID: 41133935 - Reports 6 individuals from 6 unrelated families with heterozygous de novo missense BAIAP2 variants presenting with developmental and epileptic encephalopathy (DEE). Core phenotype: infantile/early‑childhood onset refractory seizures, severe language and motor delay, intellectual disability. All patients have detailed clinical descriptions; variants cluster in the phosphorylation‑rich autoinhibited region. Functional assays (HeLa cell spreading, primary hippocampal neuron electrophysiology, zebrafish overexpression) demonstrate gain‑of‑function effects. No benign variants reported; variants absent from gnomAD. PMID: 38149472 - Reports 1 individual from 1 family with a de novo heterozygous BAIAP2 missense variant p.Arg29Trp (4 hets in gnomAD v4.1) presenting with classical lissencephaly (posterior>anterior gradient), severe global developmental delay and refractory epilepsy. Mouse Baiap2 knockdown reproduces neuronal migration defects; the p.Arg29Trp variant fails to rescue and shows reduced membrane localization, indicating a loss‑of‑function effect. Sources: Literature |
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