Genopathy
Gene-Disorder Association · Article
Gene
ALKBH8
AlkB Homolog 8, TRNA Methyltransferase
Disorder
Intellectual Developmental Disorder, Autosomal Recessive 71
First reported 2021
Supporting publications 2
Key publication · gene–disorder Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.American journal of medical genetics. Part A · 2021
Key publication · disorder Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity.The British journal of ophthalmology · 1987
Manually curated
Association Review

In brief

The association between ALKBH8 (AlkB Homolog 8, TRNA Methyltransferase) and Intellectual Developmental Disorder, Autosomal Recessive 71 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 26
Symptoms 42
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
ALKBH8

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Intellectual Developmental Disorder, Autosomal Recessive 71

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

17 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

26 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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