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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 |
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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 |
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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 |