Activity
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| Early onset or syndromic epilepsy v9.27 | SHANK3 | Ida Ertmanska Classified gene: SHANK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.27 | SHANK3 | Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported in literature with heterozygous SHANK3 variants and Phelan-McDermid syndrome. Around 30% of patients reported to date had seizures. Hence, this gene should be promoted to Green on Early onset or syndromic epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.27 | SHANK3 | Ida Ertmanska Gene: shank3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.26 | SHANK3 |
Ida Ertmanska gene: SHANK3 was added gene: SHANK3 was added to Early onset or syndromic epilepsy. Sources: Literature Q3_26_promote_green tags were added to gene: SHANK3. Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 29719671; 36967043 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, OMIM:606232; Phelan-McDermid syndrome, MONDO:0011652 Review for gene: SHANK3 was set to GREEN Added comment: PMID: 29719671 De Rubeis et al., 2018 Report of 17 individuals with Phelan-McDermid syndrome, and literature review of 60 other previously reported patients. Most mutations were truncating, often de novo, with 4 recurrent variants p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A. Seizures were present in 5/17 individuals (29%). PMID: 36967043 de Coo et al., 2023 Publication is part of European guidelines for Phelan-McDermid syndrome (PMS). In the largest cohort of PMS patients (n=201), prevalence of seizures was 27%. The prevalence goes up with age e.g., seizure onset under age 5yrs was 11%, but 43% between ages 10-18yrs. Pooled prevalence of seizures from 14 PMS studies was 32%. All types of seizures, febrile and non-febrile, have been recorded. Sources: Literature |
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