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Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh Tag for-review was removed from gene: TIMM50.
Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh commented on gene: TIMM50: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 TIMM50 Sarah Leigh Source Expert Review Green was added to TIMM50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.180 TIMM50 Arina Puzriakova Classified gene: TIMM50 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.180 TIMM50 Arina Puzriakova Added comment: Comment on list classification: Changed rating 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.
Early onset or syndromic epilepsy v2.180 TIMM50 Arina Puzriakova Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger Tag watchlist was removed from gene: TIMM50.
Tag for-review tag was added to gene: TIMM50.
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger commented on gene: TIMM50: Removed 'watchlist' tag, since this gene is no longer Amber. Note that TIMM50 is Green on the Intellectual disability panel (V3.73) and on the IEM panel (V2.8). Therefore added 'for-review' tag for discussion of alignment of epilepsy and metabolism panels.
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger Classified gene: TIMM50 as Green List (high evidence)
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger Added comment: Comment on list classification: Previous Amber rating was based on insufficient evidence (PMID:27573165/Shahrour et al 2017 who report 4 cases from 2 consanguineous families, plus a conference abstract reporting 3 further siblings). Zornitza Stark and Konstantinos Varvagiannis point out 2 new papers each with an additional case of TIMM50 variants in epileptic patients. Therefore have updated the rating from Amber to Green.
Early onset or syndromic epilepsy v2.73 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.72 TIMM50 Rebecca Foulger Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX, 617698; intellectual disability and seizure; epilepsy and developmental delay to 3-methylglutaconic aciduria, type IX, 617698; intellectual disability and seizure; epilepsy and developmental delay; epileptic encephalopathy
Early onset or syndromic epilepsy v2.71 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to 27573165; Serajee F, Hu A. A distinct type of 3-methylglutaconic aciduria due to a mutation in the Translocase of Inner Mitochondrial Membrane 50 (TIMM50) gene. ASHG meeting 2015 Abstract Nr 2299, 2015.
Early onset or syndromic epilepsy v2.70 TIMM50 Rebecca Foulger Added comment: Comment on publications: 27573165; 30190335; 31058414; Serajee et al. (ASHG conference 2015 - abstract Nr. 2299T)
Early onset or syndromic epilepsy v2.70 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to 27573165; Serajee F, Hu A. A distinct type of 3-methylglutaconic aciduria due to a mutation in the Translocase of Inner Mitochondrial Membrane 50 (TIMM50) gene. ASHG meeting 2015 Abstract Nr 2299, 2015.
Early onset or syndromic epilepsy v2.69 TIMM50 Rebecca Foulger commented on gene: TIMM50: PMID:31058414 (Tort et al., 2019) report compound het TIMM50 variants in a boy with 3-MGA-uria (p.Arg114Gln, p.Gly269Ser). At 3.5 months, a diagnosis of West syndrome was made, and he showed a good response to ACTH and antiepileptic treatment.
Early onset or syndromic epilepsy v2.69 TIMM50 Rebecca Foulger commented on gene: TIMM50: PMID:30190335. Reyes et al., 2018 report a third unrelated family. WES identified compound het pathogenic TIMM50 variants (p.S112* and p.G190A) in an infant with rapidly progressive, severe encephalopathy, including infantile seizures and severe epilepsy. Sanger sequencing confirmed the two variants in the proband and showed that the two parents were each heterozygous for one of them. In the ExAc database, the p.G190A variant was present in <200,000 alleles, with the nonsense change not reported.
Early onset or syndromic epilepsy v2.0 TIMM50 Zornitza Stark Deleted their comment
Early onset or syndromic epilepsy v2.0 TIMM50 Zornitza Stark commented on gene: TIMM50: At least 4 families reported, seizures in all reported individuals.
Early onset or syndromic epilepsy v2.0 TIMM50 Zornitza Stark edited their review of gene: TIMM50: Added comment: More families reported, supporting gene-disease association; note seizures reported in all.; Changed rating: GREEN; Changed publications: 27573165, 30190335, 31058414
Early onset or syndromic epilepsy v1.336 TIMM50 Konstantinos Varvagiannis reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414, Serajee et al. (ASHG conference 2015 - abstract Nr. 2299T); Phenotypes: 3-methylglutaconic aciduria, type IX (MIM 617698); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 TIMM50 Rebecca Foulger Source Wessex and West Midlands GLH was added to TIMM50.
Early onset or syndromic epilepsy v1.190 TIMM50 Rebecca Foulger Source NHS GMS was added to TIMM50.
Early onset or syndromic epilepsy v1.189 TIMM50 Rebecca Foulger edited their review of gene: TIMM50: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TIMM50 Tracy Lester reviewed gene: TIMM50: Rating: AMBER; Mode of pathogenicity: ; Publications: 27573165; Phenotypes: 3-methylglutaconic aciduria, type IX, 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.3 TIMM50 Sarah Leigh reviewed gene: TIMM50: Rating: ; Mode of pathogenicity: None; Publications: 27573165; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger commented on gene: TIMM50: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger Tag watchlist tag was added to gene: TIMM50.
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Marked gene: TIMM50 as ready
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Classified gene: TIMM50 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 families reported in PMID:27573165 plus 1 family reported in a conference abstract. Further published or clinical cases required for diagnostic rating.
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.646 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to 27573165
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger commented on gene: TIMM50: In a conference abstract, Serajee et al identified a homozygous mutation, Gly372Ser, in the TIMM50 gene, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria.
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger Mode of inheritance for gene: TIMM50 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger commented on gene: TIMM50
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to
Early onset or syndromic epilepsy v0.643 TIMM50 Rebecca Foulger Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, 617698; intellectual disability and seizure; epilepsy and developmental delay
Early onset or syndromic epilepsy TIMM50 Zornitza Stark reviewed gene: TIMM50
Early onset or syndromic epilepsy TIMM50 Sarah Leigh Added gene to panel