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Early onset or syndromic epilepsy v3.19 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7, 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Early onset or syndromic epilepsy v2.255 TUBB2A Arina Puzriakova Publications for gene: TUBB2A were set to 24702957; 25326637
Early onset or syndromic epilepsy v2.254 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Early onset or syndromic epilepsy v2.129 TUBB2A Arina Puzriakova reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway (West Midlands, Oxford and Wessex GLH).
Early onset or syndromic epilepsy v1.262 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.261 TUBB2A Helen Lord reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.256 TUBB2A Alison Callaway reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.191 TUBB Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB.
Early onset or syndromic epilepsy v1.191 TUBB4A Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB4A.
Early onset or syndromic epilepsy v1.191 TUBB3 Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB3.
Early onset or syndromic epilepsy v1.191 TUBB2B Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB2B.
Early onset or syndromic epilepsy v1.191 TUBB2A Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB2A.
Early onset or syndromic epilepsy v1.190 TUBB Rebecca Foulger Source NHS GMS was added to TUBB.
Early onset or syndromic epilepsy v1.190 TUBB4A Rebecca Foulger Source NHS GMS was added to TUBB4A.
Early onset or syndromic epilepsy v1.190 TUBB3 Rebecca Foulger Source NHS GMS was added to TUBB3.
Early onset or syndromic epilepsy v1.190 TUBB2B Rebecca Foulger Source NHS GMS was added to TUBB2B.
Early onset or syndromic epilepsy v1.190 TUBB2A Rebecca Foulger Source NHS GMS was added to TUBB2A.
Early onset or syndromic epilepsy v1.189 TUBB Rebecca Foulger edited their review of gene: TUBB: 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 v1.189 TUBB4A Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBB3 Rebecca Foulger edited their review of gene: TUBB3: 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 v1.189 TUBB2B Rebecca Foulger edited their review of gene: TUBB2B: 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 v1.189 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TUBB Tracy Lester reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: 23246003; Phenotypes: Cortical dysplasia complex with other brain malformations 6, 615771, Symmetric circumferential skin creases congenital 1, 156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25168210; Phenotypes: Dystonia 4 torsion autosomal dominant, 128101, Leukodystrophy hypomyelinating 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB3 Tracy Lester reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503613, 28378416, 26639658; Phenotypes: Cortical dysplasia complex with other brain malformations 1, 614039, Fibrosis of extraocular muscles congenital 3A, 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB2B Tracy Lester reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465910; Phenotypes: Cortical dysplasia complex with other brain malformations 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB2A Tracy Lester reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: 24702957; Phenotypes: Cortical dysplasia complex with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.972 UFM1 Konstantinos Varvagiannis gene: UFM1 was added
gene: UFM1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: UFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 28931644; 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy hypomyelinating 14, 617899
Penetrance for gene: UFM1 were set to Complete
Review for gene: UFM1 was set to GREEN
Added comment: Biallelic UFM1 mutations cause Leukodystrophy hypomyelinating 14, MIM 617899.

PMID: 28931644 is the first report on 16 individuals from 14 families with shared Roma ethnic background. All subjects were found to harbor a UFM1 promoter 3 basepair deletion in the homozygous state.

All patients demonstrated a severe phenotype including lack of development and severe epileptic encephalopathy while their MRI images demonstrated hypomyelination with atrophy of the basal ganglia and the cerebellum.

The promoter deletion was detected by exome sequencing. Previously a 0.8 Mb homozygous region (encompassing UFM1) was identified to be shared by all the patients in whom a SNP array was performed. Alternative causes, notably TUBB4A mutations and deletions/duplications were excluded. 3 individuals had Sanger sequencing of all coding regions within the homozygous interval to rule out other - eventually missed - variants.

PMID: 29868776 reports 4 additional individuals from 2 consanguineous families (one from Ethiopia, for the other this was not specified). All 4 patients were homozygous for the c.241C>T (NM_016617.3) or p.(Arg81Cys) variant which was shown to be hypomorphic upon functional studies.

The phenotype consisted of developmental delay (4/4 or 20/20 including the patients from the previous report with which comparison is made in table 2 of the article) with microcephaly (4/4 or 20/20) and seizures (4/4 or 16/20) as well as MRI abnormalities. Failure to thrive and/or short stature were also among the most common features.

UFM1 (as well as UFC1 also discussed in the same article) participate in ufmylation, with mutations in other enzymes of the same process (notably UBA5 - gene rated Green in the ID and epilepsy panels) having already been described in neurodevelopmental disorders.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Marked gene: TUBB4A as ready
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Classified gene: TUBB4A as Green List (high evidence)
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Marked gene: TUBB as ready
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate based on current reported phenotypes. Require additional seizure evidence before rating as Green.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Tag watchlist tag was added to gene: TUBB.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Classified gene: TUBB as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Added comment: Comment on list classification: ALthough TUBB has a Green expert review, have kept rating as Amber on phenotypic grounds, following advice from Helen Brittain. Seizures are not listed in the clinical synopsis for this particular cortical malformation disorder (MIM:615771), and although variants in other tubulin genes are linked to seizures, according to PMID:25008804 (2015), mutations in the TUBB gene have been described in three unrelated cases, none showing epilepsy.
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.426 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, 615771
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Marked gene: TUBB2B as ready
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Classified gene: TUBB2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.424 TUBB2B Rebecca Foulger Publications for gene: TUBB2B were set to
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger commented on gene: TUBB2B
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.422 TUBB2B Rebecca Foulger Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Early onset or syndromic epilepsy v0.421 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy
Added comment: TUBB2A added to panel based on PMID:24702957 (2014), which describes two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology harbouring de novo variants in TUBB2A. A third patient is reported in the large-scale study PMID:25326637 (2014); an infant with DD, seizures, perisylvian polymicrogyria and micropcephaly with a de novo missense variant in TUBB2A.
Sources: Literature
Early onset or syndromic epilepsy v0.420 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227; 26130693
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Marked gene: TUBB3 as ready
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Classified gene: TUBB3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger commented on gene: TUBB3
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227
Early onset or syndromic epilepsy v0.417 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to
Early onset or syndromic epilepsy v0.416 TUBB3 Rebecca Foulger Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.415 TUBB3 Rebecca Foulger Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Early onset or syndromic epilepsy TUBB4A Zornitza Stark reviewed gene: TUBB4A
Early onset or syndromic epilepsy TUBB3 Zornitza Stark reviewed gene: TUBB3
Early onset or syndromic epilepsy TUBB2B Zornitza Stark reviewed gene: TUBB2B
Early onset or syndromic epilepsy TUBB Zornitza Stark reviewed gene: TUBB
Early onset or syndromic epilepsy TUBB Sarah Leigh Added gene to panel