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  2. Monogenic diabetes
  3. POC5
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Monogenic diabetes

Gene: POC5

Amber List (moderate evidence)
POC5 (POC5 centriolar protein)
EnsemblGeneIds (GRCh38): ENSG00000152359
EnsemblGeneIds (GRCh37): ENSG00000152359
POC5 is in 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 4 Aug 2025, 9:50 a.m. | Last Modified: 4 Aug 2025, 9:50 a.m.
Panel Version: 3.3
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: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Aug 2025, 9:48 a.m.
Last Modified: 3 Sep 2025, 9:43 a.m.
Panel version: 3.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy
  • diabetes mellitus
  • lipodystrophy
  • renal failure
  • abnormal muscle physiology
Tags
Q3_25_promote_green
Clinvar variants
Variants in POC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: poc5 has been classified as Amber List (Moderate Evidence).

4 Aug 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: POC5 was added gene: POC5 was added to Monogenic diabetes. Sources: Literature Q3_25_promote_green tags were added to gene: POC5. Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 29272404; 40590205 Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology Review for gene: POC5 was set to GREEN