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Early onset or syndromic epilepsy v5.6 KCNH5 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 KCNH5 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: KCNH5.
Early onset or syndromic epilepsy v5.6 KCNH5 Eleanor Williams reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v5.5 KCNH5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.122 KCNH5 Arina Puzriakova Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; epilepsy, MONDO:0005027 to Developmental and epileptic encephalopathy 112, OMIM:620537
Early onset or syndromic epilepsy v4.82 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v4.81 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 24133262; 23647072
Early onset or syndromic epilepsy v4.80 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from epilepsy to developmental and epileptic encephalopathy, MONDO:0100062; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.79 KCNH5 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to epilepsy. Hence, this gene can be promoted to green rating at the next GMS review.
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.77 KCNH5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KCNH5.
Early onset or syndromic epilepsy v4.77 KCNH5 Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23647072, 35874597, 36307226, 24133262; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062, epilepsy, MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.77 KCNH5 Dmitrijs Rots reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36307226, 35874597; Phenotypes: NDD with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.331 KCNH5 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNH5.
Early onset or syndromic epilepsy v1.330 KCNH5 Rebecca Foulger Source NHS GMS was added to KCNH5.
Early onset or syndromic epilepsy v1.315 KCNH5 Rebecca Foulger commented on gene: KCNH5: Kept rating as Red based on Red post-Webex review from Helen Lord.
Early onset or syndromic epilepsy v1.315 KCNH5 Rebecca Foulger Publications for gene: KCNH5 were set to 23647072
Early onset or syndromic epilepsy v1.262 KCNH5 Rebecca Foulger reviewed gene: KCNH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.261 KCNH5 Helen Lord reviewed gene: KCNH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.177 KCNH5 Catherine Snow Source Expert Review Red was added to KCNH5.
Mode of inheritance for gene KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes epilepsy for gene: KCNH5
Rating Changed from No List (delete) to Red List (low evidence)
Early onset or syndromic epilepsy v1.21 KCNH5 Deb Pal gene: KCNH5 was added
gene: KCNH5 was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH5 were set to 23647072
Phenotypes for gene: KCNH5 were set to epilepsy
Penetrance for gene: KCNH5 were set to unknown
Review for gene: KCNH5 was set to RED
gene: KCNH5 was marked as current diagnostic
Added comment: Amplexa CHE-114 epilepsy panel
Sources: Expert list