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Early onset or syndromic epilepsy v2.250 SMC1A Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590; seizures; EPILEPTIC ENCEPHALOPATHY; Rett-like phenotype to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Early onset or syndromic epilepsy v1.191 SMC1A Rebecca Foulger Source Wessex and West Midlands GLH was added to SMC1A.
Early onset or syndromic epilepsy v1.190 SMC1A Rebecca Foulger Source NHS GMS was added to SMC1A.
Early onset or syndromic epilepsy v1.189 SMC1A Rebecca Foulger edited their review of gene: SMC1A: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 SMC1A Tracy Lester reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28166369; Phenotypes: Cornelia de Lange syndrome 2, 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.108 SMC1A Rebecca Foulger Added comment: Comment on mode of inheritance: Set MOI to X-linked dominant to match Gene2Phenotype and the MOI for SMC1A on the Intellectual disability panel. So far, mostly females have gross gene alterations of SMC1A, which are likely not tolerated in males (PMID:19842212).
Early onset or syndromic epilepsy v1.108 SMC1A Rebecca Foulger Mode of inheritance for gene: SMC1A was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.107 SMC1A Rebecca Foulger Classified gene: SMC1A as Green List (high evidence)
Early onset or syndromic epilepsy v1.107 SMC1A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on external review by Deb Pal, and a literature review. Plenty of recent papers reporting SMC1A variants causing epilepsy in female patients (e.g. PMIDs:31098032, 28677859, 28166369, 26752331,26386245,26358754). SMC1A variants can cause Cornelia de Lange syndrome (CdLS) but can also cause ID and epilepsy in the absence of CdLS features (PMID:31185419). Plus 'confirmed' rating in Gene2Phenotype for EPILEPTIC ENCEPHALOPATHY.
Early onset or syndromic epilepsy v1.107 SMC1A Rebecca Foulger Gene: smc1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.106 SMC1A Rebecca Foulger Publications for gene: SMC1A were set to 16604071; 17273969; 31185419; 31098032
Early onset or syndromic epilepsy v1.105 SMC1A Rebecca Foulger Publications for gene: SMC1A were set to 16604071; 17273969; 31185419
Early onset or syndromic epilepsy v1.104 SMC1A Rebecca Foulger Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590; seizures; EPILEPTIC ENCEPHALOPATHY to Cornelia de Lange syndrome 2, 300590; seizures; EPILEPTIC ENCEPHALOPATHY; Rett-like phenotype
Early onset or syndromic epilepsy v1.103 SMC1A Rebecca Foulger Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2 300590 to Cornelia de Lange syndrome 2, 300590; seizures; EPILEPTIC ENCEPHALOPATHY
Early onset or syndromic epilepsy v1.102 SMC1A Rebecca Foulger Publications for gene: SMC1A were set to 16604071; 17273969
Early onset or syndromic epilepsy v1.101 SMC1A Rebecca Foulger changed review comment from: PMID:31185419: Oguni et al 2019 report a missense variant (c.2683C>G:pArg895Gly) of SMC1A affecting a daughter (proband) and her mother. The daughter began having epileptic seizures age 2 years 1 month, progressing into cluster seizures. The mother began to have cluter seizures age 12 and had moderate ID. Neither individual had typical CdLS morphological features. Sequencing confirmed the variant was present in daughter and mother, but not other maternal family members. Blood samples from the paternal side were unavailable.; to: PMID:31185419: Oguni et al 2019 report a missense variant (c.2683C>G:pArg895Gly) of SMC1A affecting a daughter (proband) and her mother. The daughter began having epileptic seizures age 2 years 1 month, progressing into cluster seizures. The mother began to have cluster seizures age 12 and had moderate ID. Neither individual had typical CdLS morphological features. Sequencing confirmed the variant was present in daughter and mother, but not other maternal family members. Blood samples from the paternal side were unavailable.
Early onset or syndromic epilepsy v1.101 SMC1A Rebecca Foulger commented on gene: SMC1A
Early onset or syndromic epilepsy v1.21 SMC1A Deb Pal reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28677859, 28548707, 28166369, 26752331, 26386245, 26358754; Phenotypes: Rett-like phenotype; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Marked gene: SMC1A as ready
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported four unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Gene: smc1a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Publications for gene: SMC1A were set to 16604071
Early onset or syndromic epilepsy v0.1547 SMC1A Sarah Leigh Publications for gene: SMC1A were set to
Early onset or syndromic epilepsy v0.1546 SMC1A Sarah Leigh Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 300590
Early onset or syndromic epilepsy v0.1545 SMC1A Sarah Leigh Mode of inheritance for gene: SMC1A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SMC1A Sarah Leigh Added gene to panel