Ophthalmological ciliopathies

Gene: POC5

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 12:50 p.m. | Last Modified: 11 Mar 2026, 12:50 p.m.

Panel Version: 5.15

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. This disorder is also relevant to the R27 Paediatric disorders superpanel, which will be added through inclusion on the Ophthalmological ciliopathies panel.

Created: 4 Aug 2025, 9:50 a.m. | Last Modified: 4 Aug 2025, 9:50 a.m.

Panel Version: 5.3

Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.
Sources: Literature

Created: 4 Aug 2025, 9:48 a.m. | Last Modified: 3 Sep 2025, 9:43 a.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology

Publications

• 29272404
• 40590205