Genopathy
Gene-Disorder Association · Article
Gene
H4C1
H4 Clustered Histone 1
Disorder
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
First reported 2005
Key publication · disorder Histone H4 lysine 91 acetylation a core domain modification associated with chromatin assembly.Molecular cell · 2005
Manually curated
Association Review

In brief

The association between H4C1 (H4 Clustered Histone 1) and Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records causative variation.

Sources 1
Clinical variants 0
Symptoms 65
Compounds 0
Trials 0
Publications 0
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
H4C1

The gene

1 source summary

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

Request access
04
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

37 clinical features

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

Request access
06
Provenance

References & sources

4 references

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

Request access