Activity
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| Early onset or syndromic epilepsy v9.52 | GTPBP1 |
Achchuthan Shanmugasundram gene: GTPBP1 was added gene: GTPBP1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP1 were set to 38118446 Phenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MONDO:0975745 Review for gene: GTPBP1 was set to AMBER Added comment: PMID:38118446 (2024) reported a cohort of 20 individuals from 16 families with distinct neurodevelopmental disorders (NDDs) and syndromic facial features and identified with biallelic variants in either GTPBP1 or GTPBP2 genes. Of these, four patients from three unrelated families were identified with homozygous variants in GTPBP1 gene. Two families have different NMD-predicted nonsense variants and the third has a missense variant, and all are absent from gnomad v4.1.1. The shared clinical features of the syndrome include microcephaly, severe/ profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. In addition, abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Epilepsy was reported in 2 patients from 2 families with GTPBP1 variants. This gene has been associated with relevant phenotypes in OMIM (MIM #620888, last accessed 29 July 2026) and in Gene2Phenotype ('moderate' rating on the DD panel). Sources: Literature |
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| Early onset or syndromic epilepsy v1.191 | GTPBP2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to GTPBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | GTPBP2 | Rebecca Foulger Source NHS GMS was added to GTPBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | GTPBP2 | Rebecca Foulger reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | GTPBP2 | Tracy Lester reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 29449720 ; Phenotypes: Jaberi-Elahi syndrome, 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.511 | GTPBP2 | Louise Daugherty Added comment: Comment on phenotypes: added additional phenotype suggested by external reviewer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.511 | GTPBP2 | Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome 617988 to Jaberi-Elahi syndrome 617988; Global developmental delay; Intellectual disability; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.452 | GTPBP2 | Sarah Leigh Marked gene: GTPBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.452 | GTPBP2 | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants homozygous variants identified in 4 unrelated cases whose phenotype included seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.452 | GTPBP2 | Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.452 | GTPBP2 | Sarah Leigh Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome 617988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.451 | GTPBP2 | Sarah Leigh Classified gene: GTPBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.451 | GTPBP2 | Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | GTPBP2 | Konstantinos Varvagiannis Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||