Early onset or syndromic epilepsy
Gene: TUBGCP2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least four unrelated individuals with three distinct TUBGCP2 variants, associated with generalised seizures.Created: 27 Aug 2020, 11:09 a.m. | Last Modified: 27 Aug 2020, 11:09 a.m.
Panel Version: 2.146
Associated with phenotype in OMIM, and a probable gene for Microcephaly and Lissencephaly Spectrum Disorders in G2P.
PMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), generalised seizures (4/5, onset at 6yrs-9m, 5m, and 7m). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.
All variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed.
Sources: LiteratureCreated: 27 Aug 2020, 11:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737
Publications
Tag gene-checked tag was added to gene: TUBGCP2.
Tag for-review was removed from gene: TUBGCP2.
Source Expert Review Green was added to TUBGCP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tubgcp2 has been classified as Amber List (Moderate Evidence).
gene: TUBGCP2 was added gene: TUBGCP2 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: TUBGCP2. Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 Review for gene: TUBGCP2 was set to GREEN