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Early onset or syndromic epilepsy v2.542 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Early onset or syndromic epilepsy v2.542 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Early onset or syndromic epilepsy v2.542 KIAA1109 Sarah Leigh commented on gene: KIAA1109: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.
Early onset or syndromic epilepsy v2.0 KIAA1109 Louise Daugherty Tag watchlist was removed from gene: KIAA1109.
Early onset or syndromic epilepsy v2.0 KIAA1109 Louise Daugherty commented on gene: KIAA1109
Early onset or syndromic epilepsy v1.233 KIAA1109 Rebecca Foulger Marked gene: KIAA1109 as ready
Early onset or syndromic epilepsy v1.233 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 KIAA1109 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green- although epilepsy may be secondary to the cerebral malformations presentation, include KIAA1109 so that cases recruited through different routes are not missed. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green- although epilepsy may be secondary to the cerebral malformations presentation, include KIAA1109 so that cases recruited through different routes are not missed. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.218 KIAA1109 Rebecca Foulger Classified gene: KIAA1109 as Green List (high evidence)
Early onset or syndromic epilepsy v1.218 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.217 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green- although epilepsy may be secondary to the cerebral malformations presentation, include KIAA1109 so that cases recruited through different routes are not missed. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.191 KIAA1109 Rebecca Foulger Source Wessex and West Midlands GLH was added to KIAA1109.
Early onset or syndromic epilepsy v1.190 KIAA1109 Rebecca Foulger Source NHS GMS was added to KIAA1109.
Early onset or syndromic epilepsy v1.189 KIAA1109 Rebecca Foulger edited their review of gene: KIAA1109: 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 KIAA1109 Tracy Lester reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290337; Phenotypes: Alkuraya-Kucinskas syndrome, 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.89 KIAA1109 Rebecca Foulger changed review comment from: Comment on list classification: Re-assessed gene:disease evidence based on 2019 paper (PMID:30906834). Kept rating as Amber awaiting further information: seizures present in 2 Lithuanian siblings (PMID:29290337) plus two African-American siblings (PMID:30906834). Plus Drosophila model. There is limited patient information because severe LOF alleles are incompatible with life.; to: Comment on list classification: Re-assessed gene:disease evidence based on 2019 paper (PMID:30906834). Kept rating as Amber awaiting further information: seizures present in 2 Lithuanian siblings (PMID:29290337) plus two African-American siblings (PMID:30906834). Plus Drosophila model (PMID:19640479). There is limited patient information because severe LOF alleles are incompatible with life.
Early onset or syndromic epilepsy v1.89 KIAA1109 Rebecca Foulger Classified gene: KIAA1109 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.89 KIAA1109 Rebecca Foulger Added comment: Comment on list classification: Re-assessed gene:disease evidence based on 2019 paper (PMID:30906834). Kept rating as Amber awaiting further information: seizures present in 2 Lithuanian siblings (PMID:29290337) plus two African-American siblings (PMID:30906834). Plus Drosophila model. There is limited patient information because severe LOF alleles are incompatible with life.
Early onset or syndromic epilepsy v1.89 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.88 KIAA1109 Rebecca Foulger Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome 617822 to Alkuraya-Kucinskas syndrome 617822; seizures
Early onset or syndromic epilepsy v1.87 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 29290337; 19640479
Early onset or syndromic epilepsy v1.86 KIAA1109 Rebecca Foulger commented on gene: KIAA1109
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Marked gene: KIAA1109 as ready
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene (although not for seizures in Gen2Phen). At least 2 variants reported in Lithuanian siblings with Alkuraya-Kucinskas syndrome in which seizures were a phenotypic feature (PMID 29290337). Rare drosophila idividuals that are homozygous for a "tweek" variant (ortholog KIAA1109) survive to adulthood and are unable to walk or stand upright for long periods, plus they exhibit seizures, suggestive of severe neurological defects and similar to the reported phenotype of the Lithuanian siblings mentioned (PMID 19640479).
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Gene: kiaa1109 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Tag watchlist tag was added to gene: KIAA1109.
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Mode of inheritance for gene: KIAA1109 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1471 KIAA1109 Sarah Leigh Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome 617822
Early onset or syndromic epilepsy v0.1470 KIAA1109 Sarah Leigh Publications for gene: KIAA1109 were set to
Early onset or syndromic epilepsy KIAA1109 Zornitza Stark reviewed gene: KIAA1109
Early onset or syndromic epilepsy KIAA1109 Sarah Leigh Added gene to panel