Activity

Filter

Cancel
Date Panel Item Activity
25 actions
Early onset or syndromic epilepsy v3.93 SEMA6B Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35604360 reported new unrelated cases identified with heterozygous variants in SEMA6B. Out of 16 patients referred for ID clinic, 10 of them had epilepsy or myoclonus.

Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.
Early onset or syndromic epilepsy v3.93 SEMA6B Achchuthan Shanmugasundram Publications for gene: SEMA6B were set to 32169168; 35604360
Early onset or syndromic epilepsy v3.92 SEMA6B Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35604360 reported new unrelated cases identified with heterozygous variants in SEMA6B. Out of 16 patients referred for ID clinic, 10 of them had epilepsy or myoclonus.

Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.
Early onset or syndromic epilepsy v3.92 SEMA6B Achchuthan Shanmugasundram Publications for gene: SEMA6B were set to 32169168; 35604360
Early onset or syndromic epilepsy v3.92 SEMA6B Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35604360 reported new unrelated cases identified with heterozygous variants in SEMA6B. Out of 16 patients referred for ID clinic, 10 of them had epilepsy or myoclonus.

Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.
Early onset or syndromic epilepsy v3.92 SEMA6B Achchuthan Shanmugasundram Publications for gene: SEMA6B were set to 32169168
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh Tag for-review was removed from gene: SEMA6B.
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh commented on gene: SEMA6B
Early onset or syndromic epilepsy v2.490 SEMA6B Sarah Leigh Source Expert Review Green was added to SEMA6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.285 SEMA6B Sarah Leigh Phenotypes for gene: SEMA6B were changed from Epilepsy, progressive myoclonic, 11, 618876 to Epilepsy, progressive myoclonic, 11 OMIM:618876
Early onset or syndromic epilepsy v2.281 SEMA6B Helen Lord reviewed gene: SEMA6B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32169168; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.186 SEMA6B Arina Puzriakova Classified gene: SEMA6B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.186 SEMA6B Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Early onset or syndromic epilepsy v2.186 SEMA6B Arina Puzriakova Gene: sema6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.181 SEMA6B Arina Puzriakova Tag for-review tag was added to gene: SEMA6B.
Early onset or syndromic epilepsy v2.80 SEMA6B Rebecca Foulger changed review comment from: Comment on list classification: Added to panel and rated Green by Zornitza Stark. Sufficient cases with seizure phenotype in PMID:32169168 plus mouse model. Not yet associated with a disorder in G2P but relevant OMIM phenotype.; to: Comment on list classification: Gene was added to panel and rated Green by Zornitza Stark. Sufficient cases with seizure phenotype in PMID:32169168 plus mouse model. Not yet associated with a disorder in G2P but relevant OMIM phenotype. Therefore updated rating from Grey to Green.
Early onset or syndromic epilepsy v2.80 SEMA6B Rebecca Foulger Classified gene: SEMA6B as Green List (high evidence)
Early onset or syndromic epilepsy v2.80 SEMA6B Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Green by Zornitza Stark. Sufficient cases with seizure phenotype in PMID:32169168 plus mouse model. Not yet associated with a disorder in G2P but relevant OMIM phenotype.
Early onset or syndromic epilepsy v2.80 SEMA6B Rebecca Foulger Gene: sema6b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.79 SEMA6B Rebecca Foulger Added comment: Comment on mode of pathogenicity: The authors of PMID:32169168 suggest a dominant-negative or gain-of-function effect rather than haploinsufficiency.
Early onset or syndromic epilepsy v2.79 SEMA6B Rebecca Foulger Mode of pathogenicity for gene: SEMA6B was changed from None to Other
Early onset or syndromic epilepsy v2.78 SEMA6B Rebecca Foulger changed review comment from: PMID:32169168. In 4 unrelated patients (2 Japanese, ISraeli and Malaysian) with progressive myoclonic epilepsy, Hamanaka et al. (2020) identified de novo heterozygous frameshift mutations in the last exon of the SEMA6B gene. Variants were predicted to result in truncated proteins. Truncating variants in this region of the gene were not observed in the gnomAD database, although truncating variants in other regions of the gene were observed in gnomAD. The authors postulated a dominant-negative or gain-of-function effect rather than haploinsufficiency. In an animal model, the authors found that zebrafish with truncating sema6b variants were more susceptible to seizures.; to: PMID:32169168. In 4 unrelated patients (2 Japanese, 1 Israeli and 1 Malaysian) with progressive myoclonic epilepsy, Hamanaka et al. (2020) identified de novo heterozygous frameshift mutations in the last exon of the SEMA6B gene. Variants were predicted to result in truncated proteins. Truncating variants in this region of the gene were not observed in the gnomAD database, although truncating variants in other regions of the gene were observed in gnomAD. The authors postulated a dominant-negative or gain-of-function effect rather than haploinsufficiency. In an animal model, the authors found that zebrafish with truncating sema6b variants were more susceptible to seizures.
Early onset or syndromic epilepsy v2.78 SEMA6B Rebecca Foulger commented on gene: SEMA6B
Early onset or syndromic epilepsy v2.78 SEMA6B Rebecca Foulger Phenotypes for gene: SEMA6B were changed from Progressive myoclonic epilepsy to Epilepsy, progressive myoclonic, 11, 618876
Early onset or syndromic epilepsy v2.38 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature