ALKBH8
HGNC:25189 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
2Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in ALKBH8 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 4 | 4 |
| developmental delay | HP:0001263 | 3 | 3 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to ALKBH8| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1511G>C | c.1511G>C | 1 | 1 |
| p.Trp504Ser | p.Trp504Ser | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 2 |
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | — | 1 |
Supporting publications
5 records- 2022Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.Human geneticsPubMed ↗
- 2022Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.Frontiers in geneticsPubMed ↗
- 2021Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.American journal of medical genetics. Part APubMed ↗
- 2019Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.American journal of human geneticsPubMed ↗
- 2018A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.Scientific reportsPubMed ↗