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ALKBH8 and developmental delay are reported together in 3 articles.
Gene
ALKBH8
- HGNC
- HGNC:25189
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.
PMID 35571055 | PMCID PMC9096442 | DOI 10.3389/fgene.2022.878274 · Frontiers in genetics · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALKBH8 | “Data analysis revealed a novel biallelic missense variant (c.1511G>C; p.(Trp504Ser)) in the ALKBH8 gene, which plays a significant role in tRNA modifications.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1511G>C | “Data analysis revealed a novel biallelic missense variant (c.1511G>C; p.(Trp504Ser)) in the ALKBH8 gene, which plays a significant role in tRNA modifications.” | 0.95 | hgvs_regex_v1 |
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
PMID 33544954 | PMCID PMC8450764 | DOI 10.1002/ajmg.a.62100 · American journal of medical genetics. Part A · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALKBH8 | “Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Two affected siblings in this family exhibit global developmental delay and intellectual disability as shared characteristic features of MRT71 syndrome, and we further characterize their observed dysmorphic features and brain MRI findings.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Two affected siblings in this family exhibit global developmental delay and intellectual disability as shared characteristic features of MRT71 syndrome, and we further characterize their observed dysmorphic features and brain MRI findings.” | 0.98 | phenotype_alias_lexicon_v2 |
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
PMID 29391579 | PMCID PMC5794855 | DOI 10.1038/s41598-018-20658-w · Scientific reports · 2018 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALKBH8 | “Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Mutations have previously been reported in several members of the TRAPP complex of proteins, including TRAPPC2, TRAPPC9 and TRAPPC11, resulting in disorders involving skeletal abnormalities, intellectual disability, speech impairment and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TRAPPC6A | “A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.” | 0.98 | hgnc_dict_v1 |
| gene | RSPH6A | “Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype.” | 0.98 | hgnc_dict_v1 |