Genopathy
Gene-Disorder Association · Article
Gene
TEX12
Testis Expressed 12
Disorder
Hyperphenylalaninemia, Bh4-Deficient, A
First reported 2009
Supporting publications 6
Key publication · gene–disorder Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.Journal of inherited metabolic disease · 2009
Key publication · disorder [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].Archives francaises de pediatrie · 1977
Manually curated
Association Review

In brief

The association between TEX12 (Testis Expressed 12) and Hyperphenylalaninemia, Bh4-Deficient, A is a manually-curated gene–disease association, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
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.

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02
Provenance

Evidence and sources

1 source

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

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03
TEX12

The gene

1 source summary

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

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04
Hyperphenylalaninemia, Bh4-Deficient, A

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

46 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

13 references

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

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