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| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska changed review comment from: Comment on list classification: More than 50% of patients with biallelic AMACR variants present with seizures or have an epilepsy diagnosis. Based on available evidence, AMACR is tagged for promotion to Green on Early onset or syndromic epilepsy at the next update. As the seizures may be caused by pathological brain lesions, the gene is also tagged for expert review, to ascertain whether this gene is in scope of testing.; to: Comment on list classification: More than 50% of patients with biallelic AMACR variants present with seizures / have an epilepsy diagnosis. Based on available evidence, AMACR is tagged for promotion to Green on Early onset or syndromic epilepsy at the next update. As the seizures may be caused by pathological brain lesions, the gene is also tagged for expert review, to ascertain whether this gene is in scope of testing. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska Tag Q1_26_expert_review tag was added to gene: AMACR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska edited their review of gene: AMACR: Added comment: Comment on list classification: More than 50% of patients with biallelic AMACR variants present with seizures or have an epilepsy diagnosis. Based on available evidence, AMACR is tagged for promotion to Green on Early onset or syndromic epilepsy at the next update. As the seizures may be caused by pathological brain lesions, the gene is also tagged for expert review, to ascertain whether this gene is in scope of testing.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: AMACR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska Classified gene: AMACR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.152 | AMACR | Ida Ertmanska Gene: amacr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.151 | AMACR |
Ida Ertmanska gene: AMACR was added gene: AMACR was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 37452652 Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 Review for gene: AMACR was set to AMBER Added comment: PMID: 37452652 Palacio-Montoya et al., 2023 3 sibs with recurrent episodes of encephalopathy, seizures, and behavioural disturbances. In all 3, brain MRI showed lesions in the thalami, cerebral peduncles, and mesencephalic tegmentum, as well as brain volume loss. Homozygous AMACR c826 G>C p.Ala276Pro variant detected in affected individuals. In a literature review in the same paper, 9/16 previously reported patients with AMACR deficency had seizures / epilepsy, which correlated with abnormal brain MRI findings. The most common variant was c.154T>C, p.Ser52Pro (7/16 patients). Sources: Literature |
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