ADAT3
HGNC:25151 · SaudiVarKB evidence summary derived from retained literature mentions.
7Gene mentions
7Publications
3Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in ADAT3 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 6 | 6 |
| neurodevelopmental disorder | HP:0012759 | 3 | 3 |
| epilepsy | HP:0001250 | 2 | 2 |
| developmental delay | HP:0001263 | 1 | 1 |
Linked variants
Variants normalized to ADAT3Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 24 | 2 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | — | 1 |
| Not specified | — | 21 | 1 |
Supporting publications
7 records- 2025ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurologyPubMed ↗
- 2025ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.Scientific reportsPubMed ↗
- 2022Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.Annals of human geneticsPubMed ↗
- 2021A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis.CureusPubMed ↗
- 2019Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.Molecular and cellular biologyPubMed ↗
- 2016ADAT3-related intellectual disability: Further delineation of the phenotype.American journal of medical genetics. Part APubMed ↗
- 2013Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.Journal of medical geneticsPubMed ↗