| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Early onset or syndromic epilepsy v1.331 | KMT5B | Rebecca Foulger Source Wessex and West Midlands GLH was added to KMT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.330 | KMT5B | Rebecca Foulger Source NHS GMS was added to KMT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.316 | KMT5B | Rebecca Foulger commented on gene: KMT5B: Kept rating as Red based on Red post-Webex review from Helen Lord. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.316 | KMT5B | Rebecca Foulger Publications for gene: KMT5B were set to 29276005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.262 | KMT5B | Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.261 | KMT5B | Helen Lord reviewed gene: KMT5B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.57 | KMT5B |
Eleanor Williams gene: KMT5B was added gene: KMT5B was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 29276005 Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, 617788 Review for gene: KMT5B was set to RED Added comment: KMT5B is associated with Mental retardation, autosomal dominant 51 (#617788) in OMIM and KMT5B syndrome on Gene2phenotype. This syndrome has intellectual disability and overgrowth listed as phenotypes. PMID: 29276005 - Faundes et al 2018 - looked at patients from the Deciphering Developmental Disorders (DDD) study that high-quality-call genetic variants in methyltransferases (KMTs) and demethylases (KDMs) not yet firmly associated with DDs. 4 patients identified with either variants or deletions in KMT5B. 2 had nonsense variants, 2 had deletions encompassing KMT5B (399 kb and 839 kb). All had mild to severe intellectual disability. 2 (1 with nonsense variant, 1 with a deletion) also had seizures. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.57 | KMT5B |
Eleanor Williams gene: KMT5B was added gene: KMT5B was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 29276005 Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, 617788 Review for gene: KMT5B was set to RED Added comment: KMT5B is associated with Mental retardation, autosomal dominant 51 (#617788) in OMIM and KMT5B syndrome on Gene2phenotype. This syndrome has intellectual disability and overgrowth listed as phenotypes. PMID: 29276005 - Faundes et al 2018 - looked at patients from the Deciphering Developmental Disorders (DDD) study that high-quality-call genetic variants in methyltransferases (KMTs) and demethylases (KDMs) not yet firmly associated with DDs. 4 patients identified with either variants or deletions in KMT5B. 2 had nonsense variants, 2 had deletions encompassing KMT5B (399 kb and 839 kb). All had mild to severe intellectual disability. 2 (1 with nonsense variant, 1 with a deletion) also had seizures. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||