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Early onset or syndromic epilepsy v2.572 CNKSR2 Eleanor Williams Publications for gene: CNKSR2 were set to 28098945; 25223753; 22511892; 25644381; 28098945; 34266427
Early onset or syndromic epilepsy v2.571 CNKSR2 Eleanor Williams commented on gene: CNKSR2
Early onset or syndromic epilepsy v2.566 CNKSR2 Eleanor Williams Phenotypes for gene: CNKSR2 were changed from Mental retardation, X-linked, syndromic, Houge type 301008 to Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008; intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909
Early onset or syndromic epilepsy v2.565 CNKSR2 Eleanor Williams Publications for gene: CNKSR2 were set to 28098945; 25223753; 22511892; 25644381; 28098945
Early onset or syndromic epilepsy v1.191 CNKSR2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CNKSR2.
Early onset or syndromic epilepsy v1.190 CNKSR2 Rebecca Foulger Source NHS GMS was added to CNKSR2.
Early onset or syndromic epilepsy v1.189 CNKSR2 Rebecca Foulger edited their review of gene: CNKSR2: 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: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 CNKSR2 Tracy Lester reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28098945, 25223753 ; Phenotypes: Mental retardation, X-linked, syndromic, Houge type,301008; 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 v1.162 CNKSR2 Rebecca Foulger Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 v1.161 CNKSR2 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated mode of inheritance from XLR to XLD based on PMID:28098945, so that affected females are detected. Damiano et al., 2017 report the first female with a CNKSR2 variant and childhood epilepsy- the sister had a less severe phenotype than her two brothers, which could be subject to X-inactivation (not directly measured). The mother, who also carries the point mutation, had only febrile seizures.
Early onset or syndromic epilepsy v1.161 CNKSR2 Rebecca Foulger Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.160 CNKSR2 Rebecca Foulger Publications for gene: CNKSR2 were set to 28098945; 25223753; 22511892
Early onset or syndromic epilepsy CNKSR2 Sarah Leigh classified CNKSR2 as Green List (high evidence)
Early onset or syndromic epilepsy CNKSR2 Sarah Leigh Added gene to panel