Genopathy
Gene-Disorder Association · Article
Gene
HYLS1
HYLS1 Centriolar And Ciliogenesis Associated
Disorder
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
First reported 2016
Supporting publications 6
Key publication · disorder A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.Human genetics · 2016
Manually curated
Association Review

In brief

The association between HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated) and Neurodevelopmental Disorder With Microcephaly And Gray Sclerae is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 18
Symptoms 67
Compounds 0
Trials 0
Publications 6
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

2 sources

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

Request access
03
HYLS1

The gene

1 source summary

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

Request access
04
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

45 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

18 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access