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Early onset or syndromic epilepsy v2.518 H3F3A Helen Lord reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33268356; Phenotypes: Bryant-Li Bhoj neurodevelopmental syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh Tag for-review was removed from gene: H3F3A.
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh commented on gene: H3F3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 H3F3A Sarah Leigh Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.243 H3F3A Arina Puzriakova Phenotypes for gene: H3F3A were changed from to Developmental delay; Intellectual disability; Neurodegeneration; Epilepsy; Facial dysmorphism; Congenital anomalies
Early onset or syndromic epilepsy v2.242 H3F3A Arina Puzriakova Publications for gene: H3F3A were set to
Early onset or syndromic epilepsy v2.241 H3F3A Arina Puzriakova Mode of inheritance for gene: H3F3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.240 H3F3A Arina Puzriakova Classified gene: H3F3A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.240 H3F3A Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber, but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag) in view of evidence in recent publication (PMID: 33268356)
Early onset or syndromic epilepsy v2.240 H3F3A Arina Puzriakova Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.239 H3F3A Arina Puzriakova Tag for-review tag was added to gene: H3F3A.
Early onset or syndromic epilepsy v2.239 H3F3A Arina Puzriakova reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33268356; Phenotypes: Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.263 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Early onset or syndromic epilepsy v1.263 H3F3A Louise Daugherty commented on gene: H3F3A
Early onset or syndromic epilepsy v1.191 H3F3A Rebecca Foulger Source Wessex and West Midlands GLH was added to H3F3A.
Early onset or syndromic epilepsy v1.190 H3F3A Rebecca Foulger Source NHS GMS was added to H3F3A.
Early onset or syndromic epilepsy v1.189 H3F3A Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 H3F3A Tracy Lester reviewed gene: H3F3A: Rating: RED; Mode of pathogenicity: ; Publications: 28506301; Phenotypes: yet to be assigned ; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Classified gene: H3F3A as Red List (low evidence)
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1466 H3F3A Sarah Leigh Classified gene: H3F3A as Red List (low evidence)
Early onset or syndromic epilepsy v0.1466 H3F3A Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy H3F3A Zornitza Stark reviewed gene: H3F3A
Early onset or syndromic epilepsy H3F3A Sarah Leigh Added gene to panel