Genopathy
Gene-Disorder Association · Article
Gene
TTC21B-AS1
TTC21B Antisense RNA 1
Disorder
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
First reported 1974
Key publication · disorder The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.Birth defects original article series · 1974
Association Review

In brief

The association between TTC21B-AS1 (TTC21B Antisense RNA 1) and Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 43
Symptoms 14
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
TTC21B-AS1

The gene

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

Request access
04
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly

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

8 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

43 clinical variants

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

Request access
07
Provenance

References & sources

3 references

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

Request access