Renal ciliopathies

Gene: TMEM72

Green List (high evidence)

Comment on list classification: There are 6 families reported in literature with biallelic TMEM72 variants and a nephronophthisis phenotype. Kidney failure occurred at 21-41 years in 5 families; 1 case had prenatal-onset kidney failure. In addition, functional evidence shows that TMEM72 localises to the cilium and has a role in ciliary cholesterol transport. Based on available evidence, this gene should be promoted to Green for Renal ciliopathies. Addition to this panel also ensures inclusion on the 'Unexplained young onset end-stage renal disease' superpanel.

Created: 9 Mar 2026, 3:08 p.m. | Last Modified: 9 Mar 2026, 3:09 p.m.

Panel Version: 4.9

PMID: 41308066 Claus et al., 2025
Study identified biallelic TMEM72 variants in 9 patients from six families with a phenotype suggestive of nephronophthisis. Five families presented with kidney failure at 21-41years. Kidney ultrasound showed small-to-normal-sized kidneys, increased echogenicity and loss of corticomedullary differentiation. One patient (Family F) had a different phenotype with prenatal onset of kidney failure, as well as epilepsy and intra-uterine oligohydramnios; she died at age 2 years.
Patients in families A-E were homozygous for frameshift/truncating TMEM72 variants, while proband in family F was homozygous for a missense variant c.370G>A p.(Gly124Ser).
Functional evidence: in human-derived tubuloids, authors showed that TMEM72 localizes to the cilium; affinity proteomics approach showed an association of TMEM72 ciliary function in selective ciliary cholesterol transport.

TMEM72 has not yet been associated with disease in OMIM or Gene2Phenotype (accessed 9th March 2026).
Sources: Literature

Created: 9 Mar 2026, 3:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nephronophthisis, MONDO:0019005

Publications

• 41308066