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Early onset or syndromic epilepsy v2.63 | TUBA8 | Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.63 | TUBA8 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber for now, following Zornitza Stark's recent (Jan 2020) review. Additional case in PMID:31481326 (2020) but 2 Pakistani families (4 patients) previously reported may be related so remains a borderline case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.63 | TUBA8 | Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.62 | TUBA8 | Rebecca Foulger commented on gene: TUBA8: Reviewing 2020 review comment by Zornitza noting additional publication: PMID:31481326. PMID:31481326. Lee et al., 2020 used targeted gene sequencing to identify malformations of cortical development in 81 patients. A homozygous TUBA8 p.Asn356ProfsTer63 variant was identified in one patient with 'Polymicrogyria, agenesis of CC, ventriculomegaly'. All patients had a confirmed diagnosis of epilepsy or DD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.0 | TUBA8 | Zornitza Stark edited their review of gene: TUBA8: Added comment: Another affected individual reported as part of a bigger brain malformations cohort.; Changed publications: 31481326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.191 | TUBA8 | Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | TUBA8 | Rebecca Foulger Source NHS GMS was added to TUBA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | TUBA8 | Rebecca Foulger edited their review of gene: TUBA8: 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 | TUBA8 | Tracy Lester reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 19896110; Phenotypes: Cortical dysplasia complex with other brain malformations 8, 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.517 | TUBA8 | Rebecca Foulger Marked gene: TUBA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.517 | TUBA8 | Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate until further TUBA8 cases are confirmed. Added 'watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.517 | TUBA8 | Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.517 | TUBA8 | Rebecca Foulger Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180 to Cortical dysplasia, complex, with other brain malformations 8, 613180; seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.516 | TUBA8 | Rebecca Foulger Tag watchlist tag was added to gene: TUBA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.516 | TUBA8 | Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.516 | TUBA8 |
Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. The phenotype is appropriate for the panel as seizures are part of MIM:613180, but insufficient cases for diagnostic rating. TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180), and TUBA8 is on the UKGTN 43 gene panel for brain malformations. HOWEVER, the 4 literature cases (with all 4 patients showing seizures) come from 2 consanguineous families reported in one 2009 paper (PMID:19896110), and at least PMID:25008804 questions whether the families are related. Leeds, Oxford (Usha Kini) and Cardiff genetic testing labs all confirmed (personal communication via email) that they have not seen any TUBA8 cases for their cortical malformations panel. Based on this evidence, Helen Brittain, Clinical Fellow agreed on Amber rating for TUBA8. |
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Early onset or syndromic epilepsy v0.516 | TUBA8 | Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.433 | TUBA8 | Rebecca Foulger Publications for gene: TUBA8 were set to 19896110; 27781032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.432 | TUBA8 | Rebecca Foulger commented on gene: TUBA8: Fung et al (PMID:29588952, 2017) selected a cohort of 31 patients with ssiezure crytopgenic NIEE (Epileptic encephalopathy) and seizure onset before 24 months. A compound heterozygous variant of uncertain significance was found in TUBA8 in a patient with severe ID, developmental regression, hypotonia and seizures. Unlike in the 2009 paper (PMID:19896110), no malformation of cortical development was seen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.432 | TUBA8 | Rebecca Foulger commented on gene: TUBA8: 4 patients with 'Cortical dysplasia, complex, with other brain malformations 8, MIM:613180' were reported by Abdollahi et al. (2009, PMID:19896110). The 4 children come from 2 unrelated consanguineous Pakistani families, and all 4 children presented with seizures (infantile spasms or Tonic clonic). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.432 | TUBA8 | Rebecca Foulger Publications for gene: TUBA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.431 | TUBA8 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by G2P, OMIM and literature (PMID:19896110). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.431 | TUBA8 | Rebecca Foulger Mode of inheritance for gene: TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.430 | TUBA8 | Rebecca Foulger Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, 613180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | TUBA8 | Zornitza Stark reviewed gene: TUBA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | TUBA8 | Sarah Leigh Added gene to panel |