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| Early onset or syndromic epilepsy v2.590 | XK | Sarah Leigh edited their review of gene: XK: Added comment: After consultation with Helen Brittain (Clinical Fellow, Genomics England), the recommendation for XK has been changed to Amber. This is because there appear to be adult onset of neurological symptoms, including seizures. The scope of the Genetic epilepsy syndromes panel is targeting early onset severe or syndromic epilepsy.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.567 | XK | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554). Generalized seizures are reported in 20-40% cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842) according to OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.567 | XK | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.567 | XK |
Sarah Leigh Tag Q3_22_rating was removed from gene: XK. Tag Q3_22_MOI was removed from gene: XK. |
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| Early onset or syndromic epilepsy v2.567 | XK | Sarah Leigh Entity copied from Childhood onset dystonia or chorea or related movement disorder v1.245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.567 | XK |
Sarah Leigh gene: XK was added gene: XK was added to Genetic epilepsy syndromes. Sources: Expert list,Expert Review Amber Q3_22_rating, Q3_22_MOI tags were added to gene: XK. Mode of inheritance for gene: XK 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: XK were set to 11761473; 30128557; 8004674; 8619554 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945 |
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