Genopathy
Gene-Disorder Association · Article
Gene
TECR
Trans-2,3-Enoyl-CoA Reductase
Disorder
Intellectual Developmental Disorder, Autosomal Recessive 14
First reported 2011
Key publication · gene–disorder Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.Human molecular genetics · 2011
Key publication · disorder A biologic and genetic study of 40 cases of severe pure mental retardation.European journal of pediatrics · 1977
Manually curated
Association Review

In brief

The association between TECR (Trans-2,3-Enoyl-CoA Reductase) and Intellectual Developmental Disorder, Autosomal Recessive 14 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 3
Clinical variants 3
Symptoms 9
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

3 sources

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

Request access
03
TECR

The gene

1 source summary

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

Request access
04
Intellectual Developmental Disorder, Autosomal Recessive 14

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

4 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

3 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
Provenance

References & sources

6 references

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

Request access