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Early onset or syndromic epilepsy v1.191 TRIM8 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRIM8.
Early onset or syndromic epilepsy v1.190 TRIM8 Rebecca Foulger Source NHS GMS was added to TRIM8.
Early onset or syndromic epilepsy v1.189 TRIM8 Rebecca Foulger edited their review of gene: TRIM8: 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: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TRIM8 Tracy Lester reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27346735, 30244534 ; Phenotypes: epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Marked gene: TRIM8 as ready
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Phenotypes for gene: TRIM8 were changed from to Early-onset epileptic encephalopathy (EOEE); EE; Seizures
Early onset or syndromic epilepsy v0.535 TRIM8 Rebecca Foulger Publications for gene: TRIM8 were set to
Early onset or syndromic epilepsy v0.534 TRIM8 Rebecca Foulger Mode of inheritance for gene: TRIM8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Classified gene: TRIM8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 6 unrelated cases of patients with EE and TRIM8 variants reviewed by the recent PMID:30244534 (includes the two cases previously reported cases in PMID:27346735 and PMID:23934111 plus 4 new cases). Therefore sufficient evidence to support inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.507 TRIM8 Zornitza Stark edited their review of gene: TRIM8: Added comment: Please note new publication reporting 4 additional patients presenting with EE and de novo truncating mutations of TRIM8.; Changed rating: GREEN; Changed publications: 27346735, 30244534; Set current diagnostic: yes
Early onset or syndromic epilepsy v0.505 TRIM8 Konstantinos Varvagiannis reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy TRIM8 Zornitza Stark reviewed gene: TRIM8
Early onset or syndromic epilepsy TRIM8 Sarah Leigh Added gene to panel