Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

doi:10.1111/cge.14767

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Clinical genetics - 1 Nov 2025

Pardo Luba M, Martini Javier, Zonic Emir, Almeida Ligia S, Iqbal Maria, Sadagopan Mukunth, Reyes Alejandra P, León Nayla Y, Musambil Mohthash, Alfadhel Majid, Dar Farhan Javed, Tahir Fadwah, AlSulmi Eman, Al Qahtani Nourah, Al Taifi Hatoon Ahmed, Al Hamad Mohammad, Alhaddad Bader, Almubayedh Sondos, Alabdi Lama, Alkuraya Fowzan S, Tabarki Brahim, Tawhari Amal, Alhashem Amal, Bauer Peter, Bertoli-Avella Aida

Abstract excerpt

TMEM17 encodes a transition zone protein essential for ciliary function. Three cases with homozygous variants in TMEM17 in primary ciliopathies (Joubert and Oral-Facial-Digital syndrome) have been reported. We investigated whether biallelic TMEM17 variants contribute to primary ciliopathies. We queried our Biodatabank and evaluated the gene-disease relationship (GDR) according to the ClinGen recommendations. Four...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellum

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ciliary Motility Disorders

Share to Ciliopathies

Share to Encephalocele

Share to Eye Abnormalities

Share to Kidney Diseases, Cystic

Share to Polycystic Kidney Diseases

Share to Retinitis Pigmentosa

Source

Open in PubMed

Identifiers

PMID: 41054827
DOI: 10.1111/cge.14767

Genes

TMEM17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.PMID 41054827Read ↗

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.Semantic proximity Read ↗

Mutations in <i>TMEM231</i> cause Meckel–Gruber syndromeSemantic proximity Read ↗

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathiesSemantic proximity Read ↗

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Semantic proximity Read ↗

The morbid genome of ciliopathies: an update.Semantic proximity Read ↗

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Semantic proximity Read ↗

EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).Semantic proximity Read ↗

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.Semantic proximity Read ↗

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Semantic proximity Read ↗

Characterizing the morbid genome of ciliopathies.Semantic proximity Read ↗

Mutations in TMEM231 cause Joubert syndrome in French Canadians.Semantic proximity Read ↗

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.