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| Intellectual disability v9.323 | GABRA3 | Arina Puzriakova Publications for gene: GABRA3 were set to 41289009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.296 | GABRA3 | Ida Ertmanska Classified gene: GABRA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.296 | GABRA3 | Ida Ertmanska Added comment: Comment on list classification: There are numerous patients reported in literature with variants in GABRA3 and syndromic intellectual disability. GOF variants cause a more severe, X-linked dominant phenotype (severe ID, nonverbal), while LOF variants usually result in a milder phenotype (mild to moderate ID, language impairment) and an X-linked recessive inheritance pattern. Based on available evidence, GABRA3 should be promoted to Green with MOI X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.296 | GABRA3 | Ida Ertmanska Gene: gabra3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.295 | GABRA3 |
Ida Ertmanska gene: GABRA3 was added gene: GABRA3 was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: GABRA3. Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GABRA3 were set to 41289009 Phenotypes for gene: GABRA3 were set to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 Review for gene: GABRA3 was set to GREEN Added comment: PMID: 41289009 Johannesen et al., 2025 Cohort of 43 individuals (18 males and 25 females) with GABRA3 variants - some reported previously. Detailed genotype–phenotype analyses showed that pathogenic GABRA3 variants can cause either dominant or recessive X-linked disorders. GOF variants caused severe phenotypes and followed X-linked dominant inheritance, while LOF variants resulted in milder phenotypes and followed an X-linked recessive pattern. 30 individuals are described in detail, others excluded due to family history or neutral impact of variant. Among the 20 individuals with GOF variants, 85% (17/20) had epilepsy with a median age of onset at 33 months (range 2–252 months). In contrast, only 10% (1/10) with LOF variants had epilepsy, with onset at 4 months. Individuals with GOF variants were more likely to have severe ID (8/20 vs. 0/10 in LOF group). Female carriers of LOF variants were unaffected. GABRA3 is linked to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 (OMIM accessed 10th Mar 2026). Sources: Literature |
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