Ophthalmological ciliopathies

Gene: MDM1

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 5 unrelated cases with retinal dystrophy due to biallelic variants in this gene. Localisation in cilia indicate that MDM1 variants are associated with a first-order ciliopathy.

Created: 5 Mar 2026, 4:50 p.m. | Last Modified: 5 Mar 2026, 4:50 p.m.

Panel Version: 5.13

PMID: 41742423 (2026) - 6 individuals from 5 unrelated families with biallelic predicted null variants in MDM1 (aka SAXO6). Ophthalmic examination revealed retinitis pigmentosa in 4 individuals and cone-rod dystrophy in 2 individuals.
SAXO6 was shown to co-localise with distinct ciliary microtubules from the immotile cilium present in rod and cone photoreceptors in human retina, and mass spectrometry demonstrated an interaction with α-tubulin, supporting its classification as a microtubule inner protein.

This gene is not yet associated with any phenotype in OMIM or G2P.

Created: 5 Mar 2026, 4:45 p.m. | Last Modified: 5 Mar 2026, 4:45 p.m.

Panel Version: 8.86

Added new-gene-name tag, new approved HGNC gene symbol is SAXO6

Created: 5 Mar 2026, 3:18 p.m. | Last Modified: 5 Mar 2026, 3:18 p.m.

Panel Version: 8.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy, HP:0000556

Publications

• 41742423

Green List (high evidence)

Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy
Sources: Literature

Created: 27 Feb 2026, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy

Publications

• PMID: 41742423

Mode of pathogenicity
Other