Genopathy
Gene-Disorder Association · Article
Gene
ACTL6A
Actin Like 6A
Disorder
Complex Neurodevelopmental Disorder
First reported 2000
Supporting publications 1
Key publication · disorder Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain.American journal of human genetics · 2000
Manually curated
Association Review

In brief

The association between ACTL6A (Actin Like 6A) and Complex Neurodevelopmental Disorder is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
ACTL6A

The gene

1 source summary

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

Request access
04
Complex Neurodevelopmental Disorder

The disorder

3 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

4 references

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

Request access